ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.3316C>T (p.Arg1106Ter) (rs202033121)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000824731 SCV000063412 pathogenic Rare genetic deafness 2017-08-15 criteria provided, single submitter clinical testing The p.Arg1106X variant in PCDH15 has been reported in the homozygous state in on e individual with Usher syndrome type I (Ammar-Khodja 2009). It has also been id entified in 5/111450 European chromosomes by the Genome Aggregation Database (gn omAD, http://gnomad.broadinstitute.org; dbSNP rs202033121). Although this varian t has been seen in the general population, its frequency is low enough to be con sistent with a recessive carrier frequency. The p.Arg1106X variant leads to a pr emature stop codon at position 1106, which is predicted to lead to a truncated o r absent protein. In summary, this variant meets criteria to be classified as pa thogenic for autosomal recessive Usher syndrome based on the previously reported individual, low frequency in the general population, and predicted loss of func tion of the protein.
Counsyl RCV000039723 SCV000220613 likely pathogenic Usher syndrome, type 1F 2014-08-20 criteria provided, single submitter literature only
Fulgent Genetics,Fulgent Genetics RCV000515240 SCV000611293 pathogenic Deafness, autosomal recessive 23; Usher syndrome, type 1D; Usher syndrome, type 1F 2017-05-18 criteria provided, single submitter clinical testing

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