ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.1667A>C (p.Asp556Ala)

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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 RCV003065432 SCV003458297 uncertain significance Deficiency of alpha-mannosidase 2022-02-23 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 556 of the MAN2B1 protein (p.Asp556Ala). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with MAN2B1-related conditions. 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. 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.
Ambry Genetics RCV003081385 SCV003618565 uncertain significance Inborn genetic diseases 2022-04-22 criteria provided, single submitter clinical testing The c.1667A>C (p.D556A) alteration is located in exon 14 (coding exon 14) of the MAN2B1 gene. This alteration results from a A to C substitution at nucleotide position 1667, causing the aspartic acid (D) at amino acid position 556 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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