ClinVar Miner

Submissions for variant NM_001042702.3(PJVK):c.86A>G (p.Asp29Gly) (rs200502817)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000755504 SCV000603301 uncertain significance not provided 2017-07-31 criteria provided, single submitter clinical testing The p.Asp29Gly variant (rs200502817) has not been reported in the medical literature, but it is listed in the ClinVar database as a variant of uncertain significance (Variation ID: 43872). This variant is listed in the genome Aggregation Database (gnomAD) with an Ashkenazi Jewish population frequency of 3 percent (identified on 318 out of 10,150 chromosomes). The aspartic acid at codon 29 is highly conserved considering 12 species up to Frog (Alamut software v2.8.1), and computational analyses suggest this variant has a significant effect on DFNB59 protein structure/function (SIFT: damaging, PolyPhen2: probably damaging, and Mutation Taster: disease causing). Although the Ashkenazi Jewish population frequency suggests this variant is a benign ethic polymorphism, the clinical significance of the p.Asp29Gly variant cannot be determined with certainty.
Illumina Clinical Services Laboratory,Illumina RCV000271403 SCV000419711 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036839 SCV000060494 benign not specified 2017-07-05 criteria provided, single submitter clinical testing p.Asp29Gly variant in in exon 7 of DFNB59: This variant is not expected to have clinical significance because it has been identified in 3.1% (318/10150) of Ashkenazi Jewish chromosomes including 1 homozygote by the genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs200502817).

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