ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.1904C>T (p.Ser635Leu)

gnomAD frequency: 0.00011  dbSNP: rs201358272
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000191089 SCV000245486 uncertain significance Charcot-Marie-Tooth disease type 2D criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000860828 SCV001000992 benign Charcot-Marie-Tooth disease type 2 2024-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004020306 SCV002755187 likely benign not specified 2020-06-16 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.
Inherited Neuropathy Consortium RCV000790259 SCV000929659 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV000191089 SCV004174553 uncertain significance Charcot-Marie-Tooth disease type 2D 2016-01-06 no assertion criteria provided literature only

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