ClinVar Miner

Submissions for variant NM_002906.4(RDX):c.1487C>T (p.Ala496Val)

gnomAD frequency: 0.00173  dbSNP: rs74983220
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Total submissions: 8
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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 RCV000037714 SCV000061376 likely benign not specified 2017-06-06 criteria provided, single submitter clinical testing p.Ala496Val in exon 13 of RDX: This variant is not expected to have clinical sig nificance because it has been identified in 0.3% (411/126718) of European chromo somes including one homozygote by the Genome Aggregation Database (gnomAD, http: //gnomad.broadinstitute.org; dbSNP rs74983220).
Eurofins Ntd Llc (ga) RCV000037714 SCV000225835 likely benign not specified 2015-02-04 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000275257 SCV000367164 uncertain significance Autosomal recessive nonsyndromic hearing loss 24 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000881421 SCV001024595 likely benign not provided 2024-01-02 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000881421 SCV001145259 likely benign not provided 2019-07-03 criteria provided, single submitter clinical testing
GeneDx RCV000881421 SCV001827275 benign not provided 2019-11-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27231709)
CeGaT Center for Human Genetics Tuebingen RCV000881421 SCV004010120 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing RDX: BS2
PreventionGenetics, part of Exact Sciences RCV003934913 SCV004747723 likely benign RDX-related disorder 2022-10-26 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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