ClinVar Miner

Submissions for variant NM_003680.3(YARS1):c.298G>A (p.Val100Met) (rs766704849)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756940 SCV000884932 uncertain significance Charcot-Marie-Tooth disease, dominant intermediate C 2018-07-25 criteria provided, single submitter clinical testing The p.Val100Met variant (rs766704849) has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the Genome Aggregation Database (gnomAD) with an overall population frequency of 0.001 percent (identified on 3 out of 277,194 chromosomes). The valine at position 100 is highly conserved up to worm considering 11 species (Alamut v2.10) and computational analyses of the effects of the p.Val100Met variant on protein structure and function provide conflicting results (SIFT: damaging, MutationTaster: disease causing, PolyPhen-2: benign). Altogether, there is not enough evidence to classify the p.Val100Met variant with certainty.

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