ClinVar Miner

Submissions for variant NM_001130089.1(KARS1):c.1262G>A (p.Arg421Gln) (rs149772470)

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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 RCV000755555 SCV000604056 uncertain significance not provided 2017-06-05 criteria provided, single submitter clinical testing The p.Arg421Gln variant (rs149772470) has not been reported in the medical literature, or gene specific variation databases. This variant is listed in the NHLBI GO Exome Sequencing Project with an overall population frequency of 0.14 percent (identified on 18 out of 12996 chromosomes) and is listed in the Exome Aggregation Consortium Browser with an overall population frequency of 0.138 percent (identified on 167 out of 121308 chromosomes). The arginine at position 421 is highly conserved up to Baker's yeast (considering 15 species) (Alamut v.2.8.1) and computational analyses of the effects of the p.Arg421Gln variant on protein structure and function predict a deleterious effect (SIFT: damaging, MutationTaster: disease causing, PolyPhen-2: possibly damaging). Altogether, there is not enough evidence to classify the p.Arg421Gln variant with certainty.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625381 SCV000745165 uncertain significance Charcot-Marie-Tooth disease, recessive intermediate B 2017-09-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000506064 SCV000711643 likely benign not specified 2017-04-13 criteria provided, single submitter clinical testing p.Arg421Gln in exon 10 of KARS: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (322/12662) of European chromo somes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.o rg; dbSNP rs149772470).

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