ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.727G>A (p.Ala243Thr)

gnomAD frequency: 0.00002  dbSNP: rs760226129
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000998215 SCV001154162 uncertain significance not provided 2018-04-01 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002509587 SCV002774898 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 rs760226129 in Wolfram's syndrome yet.
Fulgent Genetics, Fulgent Genetics RCV002479183 SCV002776470 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2021-11-09 criteria provided, single submitter clinical testing

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