ClinVar Miner

Submissions for variant NM_004637.6(RAB7A):c.589C>T (p.Arg197Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001208352 SCV001379733 uncertain significance Charcot-Marie-Tooth disease type 2B 2019-09-29 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 197 of the RAB7A protein (p.Arg197Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs745507763, ExAC 0.009%). This variant has not been reported in the literature in individuals with RAB7A-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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