ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.1205G>C (p.Gly402Ala)

gnomAD frequency: 0.00081  dbSNP: rs145017164
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724967 SCV000332789 uncertain significance not provided 2015-07-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000323966 SCV000711190 uncertain significance not specified 2017-12-21 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Gly402Ala var iant in PCDH15 has been reported in the heterozygous state in 1 individual with hearing loss (Besnard 2014). It has also been identified in 0.26% (62/24036) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.br oadinstitute.org; dbSNP rs145017164). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic r ole. Computational prediction tools and conservation analysis do not provide str ong support for or against an impact to the protein. In summary, while the clini cal significance of the p.Gly402Ala variant is uncertain, its frequency suggests that it is more likely to be benign. ACMG/AMP Criteria applied: BS1_supporting.
Fulgent Genetics, Fulgent Genetics RCV000763658 SCV000894538 uncertain significance Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000724967 SCV001044828 likely benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001103157 SCV001259878 uncertain significance Usher syndrome type 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Pars Genome Lab RCV001526428 SCV001736814 uncertain significance Usher syndrome type 1F 2021-05-18 criteria provided, single submitter clinical testing
GeneDx RCV000724967 SCV001819602 likely benign not provided 2021-11-30 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Identified heterozygous in an individual with nonsyndromic hearing loss who also harbored variants in two other hearing loss-associated genes (Besnard et al., 2014).; This variant is associated with the following publications: (PMID: 24498627)
Mayo Clinic Laboratories, Mayo Clinic RCV000724967 SCV004225243 uncertain significance not provided 2023-01-13 criteria provided, single submitter clinical testing BS1_supporting
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816480 SCV005070158 uncertain significance Retinal dystrophy 2022-01-01 no assertion criteria provided clinical testing

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