ClinVar Miner

Submissions for variant NM_001080476.3(GRXCR1):c.140C>T (p.Ala47Val)

gnomAD frequency: 0.08373  dbSNP: rs57655409
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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 RCV000036855 SCV000060510 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Ala47Val in Exon 01 of GRXCR1: This variant is not expected to have clinical sig nificance because it has been identified in 5.7% (386/6772) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs57655409).
PreventionGenetics, part of Exact Sciences RCV000036855 SCV000306380 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000331168 SCV000449553 benign Autosomal recessive nonsyndromic hearing loss 25 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000036855 SCV000716973 benign not specified 2017-05-09 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002054615 SCV002401839 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002054615 SCV005299561 benign not provided criteria provided, single submitter not provided

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