ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5066TCA[3] (p.Ile1690dup)

dbSNP: rs772692454
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001243037 SCV001416169 uncertain significance not provided 2022-10-17 criteria provided, single submitter clinical testing This variant, c.5069_5071dup, results in the insertion of 1 amino acid(s) of the PCDH15 protein (p.Ile1690dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs772692454, gnomAD 0.1%). 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: 967997). 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 RCV001243037 SCV001817510 uncertain significance not provided 2022-03-07 criteria provided, single submitter clinical testing In-frame duplication of 1 amino acid in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001829009 SCV002090399 uncertain significance Usher syndrome type 1F 2020-02-03 no assertion criteria provided clinical testing

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