ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.634G>A (p.Gly212Arg)

gnomAD frequency: 0.00001  dbSNP: rs1216952842
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593925 SCV000705688 uncertain significance not provided 2017-02-06 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002509079 SCV002773856 uncertain risk allele 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 rs1216952842 in Wolfram's syndrome yet.
PreventionGenetics, part of Exact Sciences RCV004530695 SCV004109424 uncertain significance WFS1-related disorder 2023-03-07 criteria provided, single submitter clinical testing The WFS1 c.634G>A variant is predicted to result in the amino acid substitution p.Gly212Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00092% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/4-6293646-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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