ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.16del (p.Tyr6fs) (rs397517451)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000039705 SCV000799256 likely pathogenic Usher syndrome, type 1F 2018-04-09 criteria provided, single submitter clinical testing
GeneReviews RCV000219366 SCV000268761 pathogenic Usher syndrome, type 1 2016-05-19 no assertion criteria provided literature only
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000824736 SCV000063394 pathogenic Rare genetic deafness 2012-05-07 criteria provided, single submitter clinical testing The Tyr6fs variant (PCDH15) has been reported in the literature (Zheng 2005, Ouy ang 2005). This frameshift variant is predicted to alter the protein?s amino aci d sequence beginning at position 6 and lead to a premature termination codon 6 a mino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. In summary, this variant meets our criteria to be classified as pathogenic.
OMIM RCV000005223 SCV000025401 pathogenic USHER SYNDROME, TYPE ID/F, DIGENIC 2005-01-01 no assertion criteria provided literature only

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