ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2282C>T (p.Ala761Val)

dbSNP: rs71526459
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001961167 SCV002239969 uncertain significance not provided 2023-09-13 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with deafness (PMID: 26969326). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 761 of the WFS1 protein (p.Ala761Val). ClinVar contains an entry for this variant (Variation ID: 1463670). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on WFS1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002484824 SCV002785371 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2022-05-13 criteria provided, single submitter clinical testing

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