ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.1186G>A (p.Val396Ile) (rs1060502836)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472881 SCV000550938 uncertain significance Charcot-Marie-Tooth disease, type 2 2016-04-02 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 396 of the GARS protein (p.Val396Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a GARS-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Fulgent Genetics,Fulgent Genetics RCV000764712 SCV000895846 uncertain significance Charcot-Marie-Tooth disease type 2D; Distal hereditary motor neuronopathy type 5 2018-10-31 criteria provided, single submitter clinical testing

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