ClinVar Miner

Submissions for variant NM_018122.5(DARS2):c.1497G>A (p.Ser499=)

gnomAD frequency: 0.00005  dbSNP: rs201884983
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000600009 SCV000732524 likely benign not specified 2017-11-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002066876 SCV002383829 likely benign not provided 2023-04-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003343952 SCV004048901 likely benign Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 2023-04-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002066876 SCV004126314 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing DARS2: BP4, BP7

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