ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs137852647
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, 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 Laboratory Services, Illumina RCV000009788 SCV001322945 uncertain significance Neuronopathy, distal hereditary motor, type 5A 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 Laboratory Services, 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
GeneReviews RCV000009787 SCV001760939 not provided Charcot-Marie-Tooth disease type 2D no assertion provided literature only GARS1-HMSN (CMT2D & dSMA-V) [Del Bo et al 2006]
OMIM RCV000009788 SCV004045986 pathogenic Neuronopathy, distal hereditary motor, type 5A 2014-11-01 no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV000009787 SCV004174547 uncertain significance Charcot-Marie-Tooth disease type 2D 2016-01-06 no assertion criteria provided literature only

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