Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002228024 | SCV002508619 | pathogenic | Charcot-Marie-Tooth disease type 2 | 2021-05-13 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with arginine at codon 580 of the GARS protein (p.Gly580Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this variant affects GARS protein function (PMID: 17545306, 17595294, 27008886). This variant has been observed in individual(s) with distal hereditary motor neuropathy (PMID: 12690580, 16769947). It has also been observed to segregate with disease in related individuals. This variant is also known as G526R in the literature. ClinVar contains an entry for this variant (Variation ID: 9207). |
OMIM | RCV000009786 | SCV000030007 | pathogenic | Neuronopathy, distal hereditary motor, type 5A | 2006-06-13 | no assertion criteria provided | literature only | |
Inherited Neuropathy Consortium | RCV000790258 | SCV000929658 | uncertain significance | Distal spinal muscular atrophy | no assertion criteria provided | literature only | ||
Gene |
RCV001542258 | SCV001760940 | not provided | Charcot-Marie-Tooth disease type 2D | no assertion provided | literature only | GARS1-HMSN (CMT2D) [Antonellis et al 2003, Dubourg et al 2006] | |
Inherited Neuropathy Consortium Ii, |
RCV001542258 | SCV004174558 | uncertain significance | Charcot-Marie-Tooth disease type 2D | 2016-01-06 | no assertion criteria provided | literature only |