ClinVar Miner

Submissions for variant NM_004637.6(RAB7A):c.482A>G (p.Asn161Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001050283 SCV001214382 uncertain significance Charcot-Marie-Tooth disease type 2B 2019-04-01 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 161 of the RAB7A protein (p.Asn161Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant disrupts the p.Asn161 amino acid residue in RAB7A. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 23188822, 15455439, 24498653, 18272684, 26791407). This suggests that this residue is clinically-significant, and that variants that disrupt this residue are likely to be disease-causing. 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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