ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.889A>G (p.Met297Val)

dbSNP: rs1553878254
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000611113 SCV000713713 uncertain significance not specified 2017-10-24 criteria provided, single submitter clinical testing The p.Met297Val variant in WFS1 has not been previously reported in individuals with hearing loss or WFS1-related disorders, or in large population studies. Com putational prediction tools and conservation analysis suggest that the p.Met297V al variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Met297Val variant is uncertain. ACMG/AMP Criteria applied: PM2, BP4 (Richards 2015).
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002509467 SCV002774916 uncertain significance 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 rs1553878254 in Wolfram's syndrome yet.
Fulgent Genetics, Fulgent Genetics RCV002491238 SCV002789025 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2022-04-13 criteria provided, single submitter clinical testing
GeneDx RCV002508236 SCV002817792 uncertain significance not provided 2022-06-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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