ClinVar Miner

Submissions for variant NM_003680.4(YARS1):c.1008G>A (p.Leu336=)

gnomAD frequency: 0.00034  dbSNP: rs140232925
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000861108 SCV000534241 likely benign not provided 2018-10-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001002454 SCV001001331 benign Charcot-Marie-Tooth disease dominant intermediate C 2024-12-23 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000861108 SCV001146658 benign not provided 2019-01-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002454 SCV001160396 likely benign Charcot-Marie-Tooth disease dominant intermediate C 2018-07-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002461182 SCV002754907 likely benign Inborn genetic diseases 2019-07-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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