ClinVar Miner

Submissions for variant NM_003680.3(YARS1):c.483G>C (p.Leu161=) (rs780528629)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001088959 SCV000639557 likely benign Charcot-Marie-Tooth disease, dominant intermediate C 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756939 SCV000884931 uncertain significance not provided 2017-07-06 criteria provided, single submitter clinical testing The c.483G>C variant (rs780528629) has not been reported in the medical literature, is not listed in gene-specific variant databases, nor has it been previously identified in our laboratory. It is listed in the Genome Aggregation Database (gnomAD) browser with a frequency in Latino populations of 0.042% (identified in 14 out of 33,582 chromosomes). This variant does not alter the amino acid sequence of YARS protein, although computational splicing algorithms suggest this variant may influence YARS mRNA processing (Alamut software v2.9). However, in the absence of functional data, such predictions are not sufficient to assign pathogenicity. Therefore, based on the available information, the clinical significance of the c.483G>C variant cannot be determined with certainty.

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