ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5721_5724dup (p.Arg1909fs)

dbSNP: rs568470164
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673478 SCV000798682 uncertain significance Usher syndrome type 1F 2018-03-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001239240 SCV001412096 likely benign not provided 2024-01-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499186 SCV002814702 uncertain significance Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F 2022-04-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535687 SCV004113747 uncertain significance PCDH15-related disorder 2023-09-06 criteria provided, single submitter clinical testing The PCDH15 c.5721_5724dupTCTA variant is predicted to result in a frameshift and premature protein termination (p.Arg1909Serfs*24). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.032% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/10-55581761-G-GTAGA). This variant occurs in the last exon and no premature termination variants downstream of this position have been convincingly associated with disease. However, a different frameshift and premature termination variant at this position (c.5721_5724del, p.Leu1908Alafs*15) has been reported in the compound heterozygous state along with a second truncating variant in a patient with retinitis pigmentosa (Liu. 2020. PubMed ID: 33090715). Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV000673478 SCV002078196 uncertain significance Usher syndrome type 1F 2020-02-05 no assertion criteria provided clinical testing

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