ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.1753C>T (p.Arg585Cys)

gnomAD frequency: 0.00003  dbSNP: rs764543590
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001215844 SCV001387608 uncertain significance Deficiency of alpha-mannosidase 2021-12-02 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 585 of the MAN2B1 protein (p.Arg585Cys). This variant is present in population databases (rs764543590, gnomAD 0.003%). 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: 945249). 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. RCV001215844 SCV002086921 uncertain significance Deficiency of alpha-mannosidase 2020-02-13 no assertion criteria provided clinical testing

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