ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.4308GCC[2] (p.Pro1441_Pro1443del)

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
Counsyl RCV000665102 SCV000789167 uncertain significance Usher syndrome type 1F 2017-01-16 criteria provided, single submitter clinical testing
Invitae RCV001861741 SCV002194846 uncertain significance not provided 2021-08-26 criteria provided, single submitter clinical testing This variant, c.4314_4322del, results in the deletion of 3 amino acid(s) of the PCDH15 protein (p.Pro1441_Pro1443del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs780161797, ExAC 0.005%). 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: 550373). 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.
Fulgent Genetics, Fulgent Genetics RCV002485522 SCV002788472 uncertain significance Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F 2022-01-03 criteria provided, single submitter clinical testing

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