ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) (rs137852647)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV001161100 SCV001322944 uncertain significance Distal spinal muscular atrophy 2017-06-16 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV000009788 SCV001322945 uncertain significance Distal hereditary motor neuronopathy type 5 2017-06-16 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV000009787 SCV001322946 uncertain significance Charcot-Marie-Tooth disease type 2D 2017-06-16 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Institute of Human Genetics, University of Leipzig Medical Center RCV000009787 SCV001439953 pathogenic Charcot-Marie-Tooth disease type 2D 2019-01-01 criteria provided, single submitter clinical testing
OMIM RCV000009787 SCV000030008 pathogenic Charcot-Marie-Tooth disease type 2D 2014-11-01 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000790257 SCV000929657 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
OMIM RCV000009788 SCV001438348 pathogenic Distal hereditary motor neuronopathy type 5 2014-11-01 no assertion criteria provided literature only
GeneReviews RCV001542257 SCV001760939 pathogenic Charcot-Marie-Tooth disease type 2D; Distal hereditary motor neuronopathy type 5 2021-07-14 no assertion criteria provided literature only GARS1-HMSN (CMT2D & dSMA-V) [Del Bo et al 2006]

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