ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2767G>A (p.Val923Ile)

gnomAD frequency: 0.00001  dbSNP: rs755553683
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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 RCV000798086 SCV000937683 uncertain significance Deficiency of alpha-mannosidase 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 923 of the MAN2B1 protein (p.Val923Ile). The valine residue is weakly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs755553683, ExAC 0.01%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002537077 SCV003582593 uncertain significance Inborn genetic diseases 2021-09-17 criteria provided, single submitter clinical testing The c.2767G>A (p.V923I) alteration is located in exon 22 (coding exon 22) of the MAN2B1 gene. This alteration results from a G to A substitution at nucleotide position 2767, causing the valine (V) at amino acid position 923 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000798086 SCV001453907 uncertain significance Deficiency of alpha-mannosidase 2020-03-11 no assertion criteria provided clinical testing

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