ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.817G>A (p.Glu273Lys)

gnomAD frequency: 0.00003  dbSNP: rs142428158
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000767004 SCV000252519 likely benign not provided 2021-04-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26435059)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000200344 SCV000731650 uncertain significance not specified 2017-05-09 criteria provided, single submitter clinical testing The p.Glu273Lys variant in WFS1 has not been previously reported in individuals with hearing loss, but has been reported in ClinVar (Variation ID 215382) as of uncertain significance. It has also been identified in 0.16% (54/34416) of Latin o chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadins titute.org; dbSNP rs142428158). Although this variant has been seen in the gener al population, its frequency is not high enough to rule out a pathogenic role. C omputational prediction tools and conservation analysis do not provide strong su pport for or against an impact to the protein. In summary, the clinical signific ance of the p.Glu273Lys variant is uncertain.
Fulgent Genetics, Fulgent Genetics RCV000765776 SCV000897165 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000767004 SCV002189006 likely benign not provided 2023-11-06 criteria provided, single submitter clinical testing

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