ClinVar Miner

Submissions for variant NM_004637.6(RAB7A):c.471G>T (p.Lys157Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001049977 SCV001214061 pathogenic Charcot-Marie-Tooth disease type 2B 2019-01-24 criteria provided, single submitter clinical testing This sequence change replaces lysine with asparagine at codon 157 of the RAB7A protein (p.Lys157Asn). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RAB7A-related conditions. This missense change has been reported to affect RAB7A protein function (PMID: 18501189, 21151572, 23179371, 23188822, 23458836, 24344282). A different variant (c.471G>C) giving rise to the same protein effect observed here (p.Lys157Asn) has been determined to be pathogenic (PMID: 17060578). This suggests that this variant is also likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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