ClinVar Miner

Submissions for variant NM_015274.3(MAN2B2):c.112G>A (p.Asp38Asn)

gnomAD frequency: 0.00016  dbSNP: rs200406024
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005236844 SCV001572473 uncertain significance not specified 2025-02-24 criteria provided, single submitter clinical testing Variant summary: MAN2B2 c.112G>A (p.Asp38Asn) results in a conservative amino acid change located in the Glycoside hydrosylase family 38, N-terminal domain (IPR000602) of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00029 in 199310 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in MAN2B2 causing MAN2B2 Deficiency, allowing no conclusion about variant significance. c.112G>A has been reported in the literature in individuals affected with MAN2B2 Deficiency. These report(s) do not provide unequivocal conclusions about association of the variant with MAN2B2 Deficiency. Co-occurrences with other pathogenic variant(s) have been reported (DNM1 c.97C>T, p.Gln33*), providing supporting evidence for a benign role. At least one publication reports experimental evidence evaluating an impact on protein function, however, does not allow convincing conclusions about the variant effect. The following publications have been ascertained in the context of this evaluation (PMID: 31775018, 34172529). ClinVar contains an entry for this variant (Variation ID: 1065157). Based on the evidence outlined above, the variant was classified as uncertain significance.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV002287500 SCV004806271 uncertain significance not provided 2024-03-25 criteria provided, single submitter clinical testing
OMIM RCV002287500 SCV001423532 uncertain significance not provided 2020-07-16 no assertion criteria provided literature only

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