ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2849G>A (p.Arg950His)

gnomAD frequency: 0.00044  dbSNP: rs139041112
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001125242 SCV001284285 uncertain significance Deficiency of alpha-mannosidase 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001125242 SCV001412937 uncertain significance Deficiency of alpha-mannosidase 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 950 of the MAN2B1 protein (p.Arg950His). This variant is present in population databases (rs139041112, gnomAD 0.03%). 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: 890569). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MAN2B1 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.
Genome-Nilou Lab RCV001125242 SCV002027035 uncertain significance Deficiency of alpha-mannosidase 2021-09-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001125242 SCV002816259 uncertain significance Deficiency of alpha-mannosidase 2021-09-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001125242 SCV002086892 uncertain significance Deficiency of alpha-mannosidase 2020-01-27 no assertion criteria provided clinical testing

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