ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.640G>C (p.Asp214His)

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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 RCV002720747 SCV003008657 uncertain significance Deficiency of alpha-mannosidase 2022-06-01 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 214 of the MAN2B1 protein (p.Asp214His). This variant is not present in population databases (gnomAD no frequency). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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 RCV002720748 SCV003662535 uncertain significance Inborn genetic diseases 2022-11-10 criteria provided, single submitter clinical testing The c.640G>C (p.D214H) alteration is located in exon 5 (coding exon 5) of the MAN2B1 gene. This alteration results from a G to C substitution at nucleotide position 640, causing the aspartic acid (D) at amino acid position 214 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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