ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5726G>A (p.Arg1909His) (rs145851144)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039767 SCV000063456 uncertain significance not specified 2016-03-14 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Arg1909His va riant in PCDH15 has been identified by our laboratory in one individual with hea ring loss who did not have a second PCDH15 variant. This variant has also been i dentified in 14/121438 chromosomes by the Exome Aggregation Consortium (ExAC, ht tp://exac.broadinstitute.org; dbSNP rs145851144). Computational prediction tools and conservation analyses suggest that the p.Arg1909His variant may not impact the protein, though this information is not predictive enough to rule out pathog enicity. In summary, while the clinical significance of the p.Arg1909His variant is uncertain, these data suggest that it is more likely to be benign.
Counsyl RCV000671807 SCV000796828 uncertain significance Usher syndrome type 1F 2018-01-08 criteria provided, single submitter clinical testing

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