ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2027G>A (p.Arg676His)

dbSNP: rs143055296
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000490173 SCV000577480 uncertain significance not provided 2021-09-08 criteria provided, single submitter clinical testing Observed in patients with hearing loss in published literature (Moteki H et al., 2016; Kobayashi M et al., 2018); Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29529044, 26346818)
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000490173 SCV002009628 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000490173 SCV002388214 likely benign not provided 2025-01-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005034027 SCV005667527 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2024-06-11 criteria provided, single submitter clinical testing

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