ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2509T>C (p.Trp837Arg)

gnomAD frequency: 0.00001  dbSNP: rs760097655
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001308112 SCV001497548 uncertain significance Deficiency of alpha-mannosidase 2022-01-18 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 837 of the MAN2B1 protein (p.Trp837Arg). This variant is present in population databases (rs760097655, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with MAN2B1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1010474). 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: "Benign"; 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.
Natera, Inc. RCV001308112 SCV002086896 uncertain significance Deficiency of alpha-mannosidase 2020-01-24 no assertion criteria provided clinical testing

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