ClinVar Miner

Submissions for variant NM_001145319.2(PLS1):c.1087C>T (p.Leu363Phe)

dbSNP: rs1560070780
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004721578 SCV005327833 likely pathogenic not provided 2023-11-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30872814)
Center for Statistical Genetics, Columbia University RCV000754559 SCV000853297 uncertain significance Hearing impairment 2018-10-08 no assertion criteria provided research
OMIM RCV001003504 SCV001162357 pathogenic Hearing loss, autosomal dominant 76 2020-02-21 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001261780 SCV001439103 uncertain significance Autosomal dominant nonsyndromic hearing impairment no assertion criteria provided research

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