ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.1839C>T (p.Phe613=)

gnomAD frequency: 0.00024  dbSNP: rs141374386
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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 RCV001501283 SCV001706090 likely benign Charcot-Marie-Tooth disease type 2 2024-01-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000543738 SCV001747767 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002461357 SCV002755289 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: 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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