ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.1889A>G (p.Asn630Ser)

gnomAD frequency: 0.00001  dbSNP: rs539124424
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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 RCV001896576 SCV002171994 uncertain significance Deficiency of alpha-mannosidase 2022-07-11 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1400035). This variant has not been reported in the literature in individuals affected with MAN2B1-related conditions. This variant is present in population databases (rs539124424, gnomAD 0.007%). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 630 of the MAN2B1 protein (p.Asn630Ser).

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