ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.831G>A (p.Lys277=)

dbSNP: rs532368033
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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 RCV000611723 SCV000731943 likely benign not specified 2017-12-14 criteria provided, single submitter clinical testing p.Lys277Lys in exon 7 of WFS1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.20% (63/30776) of South Asian chromosomes by theGenome Aggregation Database (gnomAD, http://gnoma d.broadinstitute.org; dbSNP rs532368033).
GeneDx RCV000827310 SCV000968948 likely benign not provided 2020-11-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000827310 SCV002381557 benign not provided 2024-11-18 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002509474 SCV002774923 likely 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 rs532368033 in Wolfram's syndrome yet.

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