ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.4127C>A (p.Ala1376Asp)

dbSNP: rs752371584
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670158 SCV000794982 uncertain significance Usher syndrome type 1F 2017-10-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499169 SCV002813410 uncertain significance Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F 2021-10-20 criteria provided, single submitter clinical testing
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV000670158 SCV003761040 uncertain significance Usher syndrome type 1F 2023-01-24 criteria provided, single submitter curation The p.Ala1376Asp variant in PCDH15 has been reported in 1 individual, in the compound heterozygous state, with Usher syndrome type 1F (PMID: 28000701) and has been identified in 0.005% (1/18394) of East Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP ID: rs752371584). Although this variant has been seen in the general population in a heterozygous state, its frequency is low enough to be consistent with a recessive carrier frequency. This variant has also been reported in ClinVar (Variation ID#: 554510) and has been interpreted as a variant of uncertain significance by Counsyl. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Ala1376Asp variant is uncertain. ACMG/AMP Criteria applied: PM2_supporting, PM3 (Richards 2015).

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