ClinVar Miner

Submissions for variant NM_018122.5(DARS2):c.128-5T>A

gnomAD frequency: 0.00084  dbSNP: rs200078808
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000292593 SCV000351435 likely benign Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000607351 SCV000720111 likely benign not specified 2017-11-08 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.
Invitae RCV002059358 SCV002487884 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000292593 SCV004048866 benign Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 2023-04-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003910064 SCV004719488 benign DARS2-related condition 2019-09-26 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
GenomeConnect, ClinGen RCV000292593 SCV000606875 not provided Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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