ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2437G>A (p.Val813Met)

gnomAD frequency: 0.00001  dbSNP: rs756972444
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000414885 SCV000492618 uncertain significance Hearing impairment 2015-03-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506007 SCV002814535 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2022-05-16 criteria provided, single submitter clinical testing
Invitae RCV002521447 SCV003453589 uncertain significance not provided 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 813 of the WFS1 protein (p.Val813Met). This variant is present in population databases (rs756972444, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with WFS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 373968). 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 with a negative predictive value of 95%. 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.

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