ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1871T>C (p.Val624Ala)

gnomAD frequency: 0.00009  dbSNP: rs747477628
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000280969 SCV000343279 uncertain significance not provided 2016-07-19 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001152089 SCV001313295 uncertain significance WFS1-Related Spectrum Disorders 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001152090 SCV001313296 likely benign Autosomal dominant nonsyndromic hearing loss 6 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000280969 SCV002152257 uncertain significance not provided 2023-03-14 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 624 of the WFS1 protein (p.Val624Ala). This variant is present in population databases (rs747477628, gnomAD 0.02%). This missense change has been observed in individual(s) with non-syndromic sensorineural hearing loss (PMID: 17492394). ClinVar contains an entry for this variant (Variation ID: 289011). 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. 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 RCV005031869 SCV005665354 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2024-03-19 criteria provided, single submitter clinical testing

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