ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.408A>G (p.Gln136=)

gnomAD frequency: 0.00021  dbSNP: rs200279483
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000487956 SCV000526213 likely benign not provided 2020-10-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000487956 SCV000575513 uncertain significance not provided 2016-11-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000421000 SCV000613381 benign not specified 2021-06-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087196 SCV000657698 likely benign Charcot-Marie-Tooth disease type 2 2023-11-24 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001172979 SCV001336054 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000487956 SCV001473610 likely benign not provided 2020-05-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000421000 SCV002755264 likely benign not specified 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.
PreventionGenetics, part of Exact Sciences RCV003970177 SCV004791348 likely benign GARS1-related disorder 2019-03-19 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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