ClinVar Miner

Submissions for variant NM_001145319.2(PLS1):c.713T>G (p.Leu238Arg)

dbSNP: rs1577888561
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Medicine, Nationwide Children's Hospital RCV000789050 SCV000927120 uncertain significance Hearing impairment 2019-07-23 criteria provided, single submitter research The c.713T>G variant was identified by genome sequencing in a rare disease research study. It is absent from the gnomAD population database and has never been reported to our knowledge. Familial testing confirmed that it segregates with disease in a manner consistent with autosomal dominant inheritance. In silico prediction tools predict that the variant will be damaging. We therefore interpret c.713T>G as a variant of uncertain significance (VUS).
OMIM RCV001003506 SCV001162359 pathogenic Hearing loss, autosomal dominant 76 2020-02-21 no assertion criteria provided literature only

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