ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.4905_4907dup (p.Lys1636dup)

dbSNP: rs750133663
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667878 SCV000792390 uncertain significance Usher syndrome type 1F 2017-06-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001313603 SCV001504104 uncertain significance not provided 2021-08-26 criteria provided, single submitter clinical testing This variant, c.4905_4907dup, results in the insertion of 1 amino acid(s) to the PCDH15 protein (p.Lys1636dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs750133663, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with PCDH15-related conditions. ClinVar contains an entry for this variant (Variation ID: 552588). Experimental studies and prediction algorithms are not available or were not evaluated, 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.
GeneDx RCV001313603 SCV002050521 uncertain significance not provided 2021-06-25 criteria provided, single submitter clinical testing In-frame insertion of one amino acids in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)

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