ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.2717C>T (p.Pro906Leu) (rs374205826)

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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 RCV000039714 SCV000063403 uncertain significance not specified 2016-12-04 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Pro906Leu var iant in PCDH15 has been identified by our laboratory in 2 individuals with heari ng loss. However, neither of them had a second variant in PCDH15, and one indivi dual carried pathogenic variants in a different gene that explained their hearin g loss. This variant has also been identified in 11/111752 European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; db SNP rs374205826), though this frequency is not high enough to rule out a pathoge nic role. Computational prediction tools and conservation analyses do not provid e strong support for or against an impact to the protein. In summary, while the clinical significance of the p.Pro906Leu variant is uncertain, these data sugges t that it is more likely to be benign.
Counsyl RCV000665604 SCV000789752 uncertain significance Usher syndrome, type 1F 2017-02-16 criteria provided, single submitter clinical testing

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