ClinVar Miner

Submissions for variant NM_005908.4(MANBA):c.130G>A (p.Val44Ile)

dbSNP: rs1432738569
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000528483 SCV000655617 uncertain significance Beta-D-mannosidosis 2018-01-13 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on MANBA function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with a MANBA-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with isoleucine at codon 44 of the MANBA protein (p.Val44Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine.

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