ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2803G>A (p.Val935Ile)

gnomAD frequency: 0.00001  dbSNP: rs765269491
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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 RCV001930688 SCV002190584 uncertain significance Deficiency of alpha-mannosidase 2021-10-24 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 935 of the MAN2B1 protein (p.Val935Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs765269491, ExAC 0.009%). This variant has not been reported in the literature in individuals with MAN2B1-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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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