ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.4907_4908del (p.Lys1636fs) (rs1491209806)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667172 SCV000791581 uncertain significance Usher syndrome type 1F 2017-05-12 criteria provided, single submitter clinical testing
Invitae RCV001238927 SCV001411763 uncertain significance not provided 2019-09-06 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the PCDH15 gene (p.Lys1636Argfs*7). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 320 amino acids of the PCDH15 protein. This variant is present in population databases (rs796239806, ExAC 0.009%). This variant has not been reported in the literature in individuals with PCDH15-related conditions. ClinVar contains an entry for this variant (Variation ID: 551989). Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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