ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.26G>A (p.Gly9Glu)

gnomAD frequency: 0.00001  dbSNP: rs1170799731
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001278555 SCV003515877 uncertain significance Deficiency of alpha-mannosidase 2021-09-17 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 9 of the MAN2B1 protein (p.Gly9Glu). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with MAN2B1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamic acid amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Natera, Inc. RCV001278555 SCV001465573 uncertain significance Deficiency of alpha-mannosidase 2020-08-17 no assertion criteria provided clinical testing

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