ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.2212G>A (p.Glu738Lys)

gnomAD frequency: 0.00006  dbSNP: rs181251337
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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 RCV000263932 SCV000468722 likely benign Charcot-Marie-Tooth disease type 2D 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.
Illumina Laboratory Services, Illumina RCV000321466 SCV000468723 likely benign Distal spinal muscular atrophy 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.
Illumina Laboratory Services, Illumina RCV000378574 SCV000468724 likely benign Neuronopathy, distal hereditary motor, type 5A 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.
Athena Diagnostics Inc RCV000711744 SCV000842136 benign not provided 2018-02-09 criteria provided, single submitter clinical testing
Invitae RCV001444766 SCV001647777 likely benign Charcot-Marie-Tooth disease type 2 2022-02-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002461116 SCV002755200 likely benign Inborn genetic diseases 2022-02-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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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