ClinVar Miner

Submissions for variant NM_005908.4(MANBA):c.1131G>C (p.Gln377His)

gnomAD frequency: 0.00004  dbSNP: rs762175890
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001942987 SCV002185705 uncertain significance Beta-D-mannosidosis 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 377 of the MANBA protein (p.Gln377His). This variant is present in population databases (rs762175890, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with MANBA-related conditions. ClinVar contains an entry for this variant (Variation ID: 1411544). 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 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.
Fulgent Genetics, Fulgent Genetics RCV001942987 SCV002786957 uncertain significance Beta-D-mannosidosis 2021-07-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004641771 SCV005137626 uncertain significance Inborn genetic diseases 2024-06-10 criteria provided, single submitter clinical testing The c.1131G>C (p.Q377H) alteration is located in exon 9 (coding exon 9) of the MANBA gene. This alteration results from a G to C substitution at nucleotide position 1131, causing the glutamine (Q) at amino acid position 377 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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