ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.1996G>A (p.Val666Met)

gnomAD frequency: 0.00001  dbSNP: rs544634101
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001477654 SCV001681900 likely benign Charcot-Marie-Tooth disease type 2 2023-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027783 SCV002756038 likely benign not specified 2020-06-30 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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