Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Fulgent Genetics, |
RCV002531897 | SCV005683324 | pathogenic | Borjeson-Forssman-Lehmann syndrome | 2024-04-05 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV002531897 | SCV003445904 | pathogenic | Borjeson-Forssman-Lehmann syndrome | 2022-07-11 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 521446). This premature translational stop signal has been observed in individual(s) with clinical features of PHF6-related conditions (PMID: 28539120). This sequence change creates a premature translational stop signal (p.Arg274*) in the PHF6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PHF6 are known to be pathogenic (PMID: 12415272, 24092917, 25099957, 26648834). |
| Gene |
RCV001092161 | SCV002817800 | pathogenic | not provided | 2022-06-28 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32552793, 28539120, 35662002) |
| Laboratorio de Genetica e Diagnostico Molecular, |
RCV002252179 | SCV002522725 | pathogenic | See cases | 2021-05-20 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PVS1, PS4, PM2 |
| Ce |
RCV001092161 | SCV001248542 | pathogenic | not provided | 2018-12-01 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000624597 | SCV000742039 | pathogenic | Inborn genetic diseases | 2025-04-28 | criteria provided, single submitter | clinical testing | The c.820C>T (p.R274*) alteration, located in exon 8 (coding exon 7) of the PHF6 gene, consists of a C to T substitution at nucleotide position 820. This changes the amino acid from a arginine (R) to a stop codon at amino acid position 274. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This variant was determined to be de novo in at least one individual with features consistent with Borjeson-Forssman-Lehmann syndrome (Zahir, 2017; Gerber, 2022). Based on the available evidence, this alteration is classified as pathogenic. |