ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5371CCT[1] (p.Pro1792_Pro1793del)

dbSNP: rs978342737
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001813855 SCV002061066 uncertain significance not provided 2022-01-10 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 2 amino acids in a non-repeat region; In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 15537665)
Fulgent Genetics, Fulgent Genetics RCV002503305 SCV002814975 uncertain significance Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F 2021-07-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001813855 SCV003471623 uncertain significance not provided 2022-07-19 criteria provided, single submitter clinical testing This variant, c.5374_5379del, results in the deletion of 2 amino acid(s) of the PCDH15 protein (p.Pro1792_Pro1793del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.007%). 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: 1334341). 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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