ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1442T>C (p.Leu481Pro)

gnomAD frequency: 0.00004  dbSNP: rs756067305
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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 RCV001927232 SCV002158055 uncertain significance not provided 2021-08-04 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with WFS1-related conditions. This variant is present in population databases (rs756067305, ExAC 0.03%). This sequence change replaces leucine with proline at codon 481 of the WFS1 protein (p.Leu481Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline.
Fulgent Genetics, Fulgent Genetics RCV005038455 SCV005660246 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2024-05-31 criteria provided, single submitter clinical testing

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