ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.44C>T (p.Ala15Val)

gnomAD frequency: 0.00004  dbSNP: rs758037738
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001070294 SCV001235516 likely benign Charcot-Marie-Tooth disease type 2 2023-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029285 SCV002754980 likely benign not specified 2019-09-19 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.
Genesis Genome Database RCV000857173 SCV000999754 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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