Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV006453547 | SCV007336768 | likely benign | not specified | 2025-10-07 | criteria provided, single submitter | clinical testing | Variant summary: POU1F1 c.27T>C alters a conserved nucleotide resulting in a synonymous change. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00022 in 251088 control chromosomes. This frequency is not significantly higher than estimated for disease-causing variants in POU1F1, allowing no conclusion about variant significance. To our knowledge, no occurrence of c.27T>C in individuals affected with POU1F1-related conditions and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 902196). Based on the evidence outlined above, the variant was classified as likely benign. |
| Breakthrough Genomics, |
RCV003546655 | SCV005189690 | uncertain significance | not provided | criteria provided, single submitter | not provided | ||
| Labcorp Genetics |
RCV003546655 | SCV004266488 | likely benign | not provided | 2026-02-04 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV001148589 | SCV001309495 | uncertain significance | Pituitary hormone deficiency, combined, 1 | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
| Prevention |
RCV003973106 | SCV004794024 | likely benign | POU1F1-related disorder | 2019-05-02 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |