ClinVar Miner

Submissions for variant NM_003024.3(ITSN1):c.4381C>T (p.Arg1461Cys)

dbSNP: rs1985063411
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002462339 SCV002757411 uncertain significance not provided 2022-05-24 criteria provided, single submitter clinical testing Identified in a patient with esophageal atresia/tracheoesophageal fistula who also harbored a variant in the WDFY3 gene (Wang et al., 2020); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32641753)
Shen Lab, Columbia University Medical Center RCV001172294 SCV001335247 likely pathogenic Tracheoesophageal fistula 2019-07-01 no assertion criteria provided research

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