ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.154C>A (p.Pro52Thr)

dbSNP: rs111773340
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729050 SCV000856684 uncertain significance not provided 2017-09-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000729050 SCV001473334 likely benign not provided 2019-09-12 criteria provided, single submitter clinical testing
GeneDx RCV000729050 SCV001783422 uncertain significance not provided 2021-08-19 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Invitae RCV000729050 SCV002353718 likely benign not provided 2023-12-31 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002509089 SCV002769815 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 rs111773340 in Wolfram's syndrome yet.

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