ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.862G>A (p.Val288Met)

gnomAD frequency: 0.00001  dbSNP: rs71537685
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000171514 SCV000221713 uncertain significance not specified 2016-09-28 criteria provided, single submitter research
Invitae RCV001303065 SCV001492298 uncertain significance not provided 2023-10-03 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 288 of the WFS1 protein (p.Val288Met). This variant is present in population databases (rs71537685, gnomAD 0.004%). 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: 191322). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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 RCV002498858 SCV002814055 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2021-11-15 criteria provided, single submitter clinical testing
Laboratory of Prof. Karen Avraham, Tel Aviv University RCV004584621 SCV005073821 pathogenic Autosomal dominant nonsyndromic hearing loss 6 2024-06-13 criteria provided, single submitter research Pathogenic by Deafness Variation Databse

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