ClinVar Miner

Submissions for variant NM_001145319.2(PLS1):c.383T>C (p.Phe128Ser) (rs1577876794)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics,Montpellier University Hospital RCV000856828 SCV000920378 likely pathogenic Autosomal dominant non-syndromic sensorineural deafness type DFNA; Bilateral sensorineural hearing impairment 2019-05-29 no assertion criteria provided clinical testing The p.(Phe128Ser) variant in PLS1 has been reported in 3 individuals of the same family (3 generations) presenting with the phenotype. The variant is absent from large population studies and predicted to possibly alter the structure of the protein. It is then considered as likely pathogenic.
OMIM RCV001003507 SCV001162360 pathogenic Deafness, autosomal dominant 76 2020-02-21 no assertion criteria provided literature only

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