ClinVar Miner

Submissions for variant NM_005908.4(MANBA):c.2630A>G (p.Asp877Gly)

dbSNP: rs752396515
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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 RCV002005690 SCV002269240 uncertain significance Beta-D-mannosidosis 2020-11-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with MANBA-related conditions. This sequence change replaces aspartic acid with glycine at codon 877 of the MANBA protein (p.Asp877Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. 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 C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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