ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.647A>G (p.His216Arg)

dbSNP: rs768987322
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253591 SCV001429389 likely pathogenic Charcot-Marie-Tooth disease type 2D 2019-05-15 criteria provided, single submitter clinical testing
Mendelics RCV001260979 SCV002516442 pathogenic Neuronopathy, distal hereditary motor, type 5A 2022-05-04 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV003482320 SCV004229654 uncertain significance not provided 2023-03-31 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with clinical features associated with this gene. Computational tools predict that this variant is damaging.
Genesis Genome Database RCV000857176 SCV000999757 uncertain significance Distal spinal muscular atrophy 2019-08-14 no assertion criteria provided research
OMIM RCV001260979 SCV001438351 pathogenic Neuronopathy, distal hereditary motor, type 5A 2023-10-16 no assertion criteria provided literature only

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