ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.2971C>T (p.Arg991Ter) (rs754391973)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals RCV000210315 SCV000259086 pathogenic Usher syndrome, type 1D 2015-08-28 no assertion criteria provided clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781698 SCV000919961 pathogenic Usher syndrome, type 1F 2018-03-02 criteria provided, single submitter clinical testing Variant summary: PCDH15 c.2971C>T (p.Arg991X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 2e-05 in 246060 control chromosomes. This frequency is not higher than expected for a pathogenic variant in PCDH15 causing Usher Syndrome Type 1F (2e-05 vs 0.0032), allowing no conclusion about variant significance. The c.2971C>T variant has been reported in the literature in multiple homozygous individuals affected with Usher Syndrome Type 1F. These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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