ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.1415A>G (p.His472Arg) (rs1060502838)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000459084 SCV000550942 pathogenic Charcot-Marie-Tooth disease, type 2 2018-12-03 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 472 of the GARS protein (p.His472Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to segregate with peripheral neuropathy in two families (PMID: 16014653, 24627108).  This variant has also been reported as p.His418Arg. Experimental studies have shown that this variant impairs the aminoacylation activity of the encoded protein (PMID: 25168514). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics,Cologne University RCV000664213 SCV000787774 pathogenic Distal hereditary motor neuronopathy type 5 2018-04-25 no assertion criteria provided clinical testing
Inherited Neuropathy Consortium RCV000789777 SCV000929161 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000790256 SCV000929656 uncertain significance Distal spinal muscular atrophy no assertion criteria provided literature only
OMIM RCV000664213 SCV001451405 pathogenic Distal hereditary motor neuronopathy type 5 2014-11-01 no assertion criteria provided literature only

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