ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.619C>A (p.Leu207Met)

gnomAD frequency: 0.00001  dbSNP: rs778300782
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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 RCV001965106 SCV002213188 uncertain significance Deficiency of alpha-mannosidase 2022-06-07 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 207 of the MAN2B1 protein (p.Leu207Met). This variant is present in population databases (rs778300782, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with MAN2B1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1438112). 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: "Tolerated"; 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.
GeneDx RCV003128834 SCV003805152 uncertain significance not provided 2022-08-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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