ClinVar Miner

Submissions for variant NM_001605.2(AARS1):c.986G>A (p.Arg329His) (rs267606621)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168406 SCV000219100 pathogenic Charcot-Marie-Tooth disease, type 2 2018-07-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 329 of the AARS protein (p.Arg329His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with Charcot-Marie-Tooth disease in several families (PMID: 20045102, 22009580). ClinVar contains an entry for this variant (Variation ID: 8466). Experimental studies have shown that this missense change severely reduces enzyme activity of alanyl-tRNA synthetase (PMID: 22009580). For these reasons, this variant has been classified as Pathogenic.
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000008987 SCV000292343 pathogenic Charcot-Marie-Tooth disease, type 2N 2015-08-18 criteria provided, single submitter research This variant has been previously reported as disease-causing and was found in a proband and his father with axonal neuropathy
OMIM RCV000008987 SCV000029201 pathogenic Charcot-Marie-Tooth disease, type 2N 2019-08-20 no assertion criteria provided literature only
GeneReviews RCV000192253 SCV000239901 pathogenic Charcot-Marie-Tooth disease 2015-04-30 no assertion criteria provided literature only

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