ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.634A>G (p.Met212Val) (rs3743808)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000780610 SCV000918026 uncertain significance not specified 2018-08-31 criteria provided, single submitter clinical testing Variant summary: PMM2 c.634A>G (p.Met212Val) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00061 in 277232 control chromosomes, predominantly at a frequency of 0.0084 within the East Asian subpopulation in the gnomAD database. The observed variant frequency within East Asian control individuals in the gnomAD database is approximately 1.5-fold of the estimated maximal expected allele frequency for a pathogenic variant in PMM2 causing Congenital Disorder of Glycosylation Type 1a phenotype (0.0056), strongly suggesting that the variant is a benign polymorphism found primarily in populations of East Asian origin. The variant, c.634A>G, has been reported in the literature in an individual affected with Congenital Disorder of Glycosylation Type 1a (Ren_2015). This report does not provide an unequivocal conclusion about association of the variant with Congenital Disorder of Glycosylation Type 1a. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Invitae RCV000877159 SCV001019851 likely benign not provided 2019-03-04 criteria provided, single submitter clinical testing

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