ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.4733_4736dup (p.Leu1580fs)

dbSNP: rs770063261
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671488 SCV000796465 uncertain significance Usher syndrome type 1F 2017-12-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004735740 SCV005360487 uncertain significance PCDH15-related disorder 2024-08-29 no assertion criteria provided clinical testing The PCDH15 c.4733_4736dupTCAG variant is predicted to result in a frameshift and premature protein termination (p.Leu1580Glnfs*13). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD. This variant occurs in the last exon of the PCDH15 alternatively spliced transcript known as CD1 (NM_033056), but this exon is not required for proper inner ear hair cell function and maintenance of hearing and is not included in the biologically relevant transcript for hearing loss known as CD2 (NM_001142769; Webb et al. 2011. PubMed ID: 21427143; Pepermans et al. 2014. PubMed ID: 24940003). Furthermore, loss of function variants in this exon of CD1 have been shown to occur at population frequencies inconsistent with pathogenicity (Perreault-Micale et al. 2014. PubMed ID: 25307757). This variant is interpreted as suspected benign.

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