ClinVar Miner

Submissions for variant NM_004637.5(RAB7A):c.484G>A (p.Val162Met) (rs121909079)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000007771 SCV000942442 pathogenic Charcot-Marie-Tooth disease, axonal, type 2b 2018-12-10 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 162 of the RAB7A protein (p.Val162Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. 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: 12545426, 27462242, 22971099). ClinVar contains an entry for this variant (Variation ID: 7346). Experimental studies have shown that this missense change alters protein function (PMID: 23188822, 21151572, 18272684, 26791407). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000007771 SCV000027972 pathogenic Charcot-Marie-Tooth disease, axonal, type 2b 2003-03-01 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059224 SCV000090753 not provided not provided no assertion provided not provided
Inherited Neuropathy Consortium RCV000789554 SCV000928910 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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