Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory of Genetics, |
RCV003479173 | SCV006105262 | likely benign | not specified | 2025-02-16 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003479173 | SCV004223275 | likely benign | not specified | 2023-11-30 | criteria provided, single submitter | clinical testing | Variant summary: TBX1 c.1049G>A (p.Gly350Asp) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00082 (1096 variant alleles) in 1345326 control chromosomes in the gnomAD v4 database. c.1049G>A has been reported in the literature in individuals affected with aortic arch anomalies or congenital heart defects (Gong_2001, Zodanu_2021). These reports do not provide unequivocal conclusions about association of the variant with TBX1-Related Disorders. Although reported in the literature in individuals affected with aortic arch anomalies or congenital heart defects (Gong_2001, Zodanu_2021), to our knowledge no penetrant association of this variant with TBX1-related disorders and no experimental evidence has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 29500247, 11748311, 29250159, 33995479). Five submitters have cited clinical-significance assessments for this variant to ClinVar after 2014 and classified this variant as uncertain significance (n=3) and likely benign (n=2). Based on the evidence outlined above, the variant was classified as likely benign. |
| Ce |
RCV001574708 | SCV001962426 | benign | not provided | 2026-03-01 | criteria provided, single submitter | clinical testing | TBX1: BS1, BS2 |
| Gene |
RCV001574708 | SCV001801574 | likely benign | not provided | 2024-06-15 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
| Labcorp Genetics |
RCV000876712 | SCV001019319 | likely benign | DiGeorge syndrome | 2026-01-30 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV000765609 | SCV000896933 | uncertain significance | Conotruncal heart malformations; Velocardiofacial syndrome; DiGeorge syndrome; Tetralogy of Fallot | 2018-10-31 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000618252 | SCV000736024 | likely benign | Cardiovascular phenotype | 2025-06-20 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |