ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2744T>C (p.Leu915Pro) (rs1555706137)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658011 SCV000779782 likely pathogenic not provided 2019-06-27 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001194449 SCV001364015 uncertain significance not specified 2019-06-13 criteria provided, single submitter clinical testing Variant summary: MAN2B1 c.2744T>C (p.Leu915Pro) results in a non-conservative amino acid change located in the Glycosyl hydrolases family 38, C-terminal beta sandwich domain of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 250580 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2744T>C in individuals affected with Alpha-Mannosidosis and no experimental evidence demonstrating its impact on protein function have been reported. A ClinVar submission from a clinical diagnostic laboratories (evaluation after 2014) cites the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as uncertain significance.

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