ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.144C>T (p.Ala48=)

gnomAD frequency: 0.00003  dbSNP: rs754360926
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711738 SCV000842128 benign not provided 2017-09-21 criteria provided, single submitter clinical testing
Invitae RCV001089118 SCV001010060 likely benign Charcot-Marie-Tooth disease type 2 2023-10-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002462062 SCV002755255 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: 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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