ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr) (rs104894532)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000008159 SCV000220648 likely pathogenic Congenital disorder of glycosylation, type Ia 2014-08-27 criteria provided, single submitter literature only
Integrated Genetics/Laboratory Corporation of America RCV000008159 SCV000920011 pathogenic Congenital disorder of glycosylation, type Ia 2018-04-23 criteria provided, single submitter clinical testing Variant summary: PMM2 c.26G>A (p.Cys9Tyr) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was observed with an allele frequency of 4.2e-06 in 236634 control chromosomes (gnomAD and publications). The variant, c.26G>A, has been reported in the literature in multiple individuals affected with Congenital Disorder of Glycosylation Type 1a (Bjursell_2000, Vuillaumier-Barrot_2000). These data indicate that the variant is very likely to be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in 30%-50% of normal activity. 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 pathogenic.
OMIM RCV000008159 SCV000028364 pathogenic Congenital disorder of glycosylation, type Ia 2000-08-01 no assertion criteria provided literature only

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