ClinVar Miner

Submissions for variant NM_004637.5(RAB7A):c.385C>T (p.Leu129Phe) (rs121909078)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000007770 SCV001217105 pathogenic Charcot-Marie-Tooth disease type 2B 2019-02-18 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 129 of the RAB7A protein (p.Leu129Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with Charcot-Marie-Tooth disease in a large family, and is thought to be a founder mutation originating from Austria (PMID: 12545426, 19651702, 10636124, 11094113). ClinVar contains an entry for this variant (Variation ID: 7345). This variant has been reported to affect RAB7A protein function (PMID: 24521780, 23179371, 26791407, 18272684, 21151572, 23188822, 20028791). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000007770 SCV000027971 pathogenic Charcot-Marie-Tooth disease type 2B 2003-03-01 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059221 SCV000090750 not provided not provided no assertion provided not provided
Inherited Neuropathy Consortium RCV000789555 SCV000928911 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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