ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1507G>A (p.Val503Ile)

gnomAD frequency: 0.00004  dbSNP: rs573775230
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001722099 SCV000252486 uncertain significance not provided 2023-06-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Identified in an individual with early onset type 2 diabetes, a second variant in WFS1 was not identified (Li Y et al., 2023); This variant is associated with the following publications: (PMID: 37277527)
Illumina Laboratory Services, Illumina RCV001155751 SCV001317208 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 RCV001155752 SCV001317209 uncertain significance 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 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001722099 SCV002281902 likely benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003126580 SCV003801379 benign Wolfram syndrome 1 criteria provided, single submitter research Potent mutations in WFS1 gene are associated with Wolfram's syndrome, an autosomal recessive condition, which cause diabetes mellitus, diabetes insipidus, deafness and optic atrophy. However no sufficient evidence is found to ascertain the role of this particular variant rs573775230 in Wolfram's syndrome yet.
Fulgent Genetics, Fulgent Genetics RCV005031734 SCV005660254 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2024-06-24 criteria provided, single submitter clinical testing

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