Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Human Genetics, |
RCV000626398 | SCV000678733 | likely pathogenic | Waardenburg syndrome type 2A | 2017-03-01 | criteria provided, single submitter | research | |
Center for Human Genetics, |
RCV000626398 | SCV000781740 | pathogenic | Waardenburg syndrome type 2A | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001848977 | SCV002104327 | pathogenic | not provided | 2022-01-24 | 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: 29407415, 27759048, 20478267, 27562378, 29798271, 33045145, 26417640, 30936914, 34323021, 27535533, 23512835) |
Invitae | RCV003767250 | SCV004569516 | pathogenic | Tietz syndrome; Waardenburg syndrome type 2A; Melanoma, cutaneous malignant, susceptibility to, 8 | 2024-01-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg110*) in the MITF gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MITF are known to be pathogenic (PMID: 8659547, 20127975). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autosomal dominant Waardenburg syndrome (PMID: 20478267, 23512835). ClinVar contains an entry for this variant (Variation ID: 488040). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |