ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1478T>C (p.Val493Ala)

gnomAD frequency: 0.00009  dbSNP: rs767366742
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001806920 SCV002051572 uncertain significance not provided 2021-02-14 criteria provided, single submitter clinical testing PM2
Fulgent Genetics, Fulgent Genetics RCV002482335 SCV002776848 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2022-05-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV003247030 SCV003938611 uncertain significance Inborn genetic diseases 2023-03-21 criteria provided, single submitter clinical testing The c.1478T>C (p.V493A) alteration is located in exon 8 (coding exon 7) of the WFS1 gene. This alteration results from a T to C substitution at nucleotide position 1478, causing the valine (V) at amino acid position 493 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001806920 SCV004457174 uncertain significance not provided 2023-07-19 criteria provided, single submitter clinical testing 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. 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) performed at Invitae indicates that this missense variant is not expected to disrupt WFS1 protein function. ClinVar contains an entry for this variant (Variation ID: 1331576). This variant has not been reported in the literature in individuals affected with WFS1-related conditions. This variant is present in population databases (rs767366742, gnomAD 0.04%). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 493 of the WFS1 protein (p.Val493Ala).

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