ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.2419dup (p.Ile807fs) (rs781148814)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412083 SCV000486501 likely pathogenic Usher syndrome, type 1F 2016-06-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000824732 SCV000713303 pathogenic Rare genetic deafness 2017-07-10 criteria provided, single submitter clinical testing The p.Ile807fs variant in PCDH15 has not been previously reported in the literat ure, but has been reported in ClinVar (Variation ID: 371039). This variant has b een identified in 2/111580 European chromosomes by the Genome Aggregation Databa se (gnomAD, http://gnomad.broadinstitute.org/; dbSNP rs781148814). This variant is predicted to cause a frameshift, which alters the protein?s amino acid sequen ce beginning at position 807 and leads to a premature termination codon 7 amino acids downstream. Loss of function of the PCDH15 gene is an established disease mechanism in autosomal recessive Usher syndrome type 1. In summary, this varian t meets criteria to be classified as pathogenic for Usher syndrome type 1 in an autosomal recessive manner based on predicted impact to the protein.

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