ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.4308GCC[8] (p.Pro1441_Pro1443dup)

dbSNP: rs559130985
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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 RCV001243320 SCV001416469 uncertain significance not provided 2024-10-25 criteria provided, single submitter clinical testing This variant, c.4314_4322dup, results in the insertion of 3 amino acid(s) of the PCDH15 protein (p.Pro1441_Pro1443dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs559130985, gnomAD 0.05%). This variant has been observed in individual(s) with deafness (PMID: 26166082). ClinVar contains an entry for this variant (Variation ID: 968229). 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 RCV001243320 SCV005325741 uncertain significance not provided 2024-02-29 criteria provided, single submitter clinical testing In-frame duplication of 3 amino acids in a repetitive region with no known function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 26166082)
Natera, Inc. RCV001829021 SCV002092277 uncertain significance Usher syndrome type 1F 2020-01-24 no assertion criteria provided clinical testing

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