ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.1167del (p.Asn389fs) (rs1591095476)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000826125 SCV000967634 likely pathogenic Usher syndrome 2019-01-22 criteria provided, single submitter clinical testing The p.Asn389LysfsX32 variant in PCDH15 has not been previously reported in individuals with hearing loss or Usher syndrome and was absent from large population studies. This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 389 and leads to a premature termination codon 32 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Loss of function of the PCDH15 gene is an established disease mechanism in autosomal recessive Usher syndrome. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal recessive Usher syndrome. ACMG/AMP Criteria applied: PVS1, PM2.

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