ClinVar Miner

Submissions for variant NM_001042702.5(PJVK):c.793C>G (p.Arg265Gly)

dbSNP: rs17304212
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036837 SCV000060492 benign not specified 2011-04-26 criteria provided, single submitter clinical testing The Arg265Gly variant in DFNB59 has been reported in 4/30 probands with SNHL and 17/200 control chromosomes (Hashmzadeh-Chaleshtori, 2007), and was reported at a frequency of 1.7% in the Yoruba population in dbSNP (rs17304212). Therefore, t his variant is not expected to have clinical significance due to equal occurrenc e in probands and controls.
PreventionGenetics, part of Exact Sciences RCV000036837 SCV000306307 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000036837 SCV000716966 benign not specified 2017-08-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Laboratory Services, Illumina RCV001135345 SCV001295122 uncertain significance Autosomal recessive nonsyndromic hearing loss 59 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.
Genome-Nilou Lab RCV001135345 SCV001876666 benign Autosomal recessive nonsyndromic hearing loss 59 2021-07-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002228121 SCV002511366 benign not provided 2024-02-01 criteria provided, single submitter clinical testing

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