ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.426T>G (p.Ile142Met) (rs781610241)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000589576 SCV000696498 uncertain significance not provided 2016-03-25 criteria provided, single submitter clinical testing Variant Summary: This PMM2 variant affects a non-conserved nucleotide, resulting in an amino acid change from Ile to Met. 3/4 in-silico tools predict this variant to be benign (SNPs&GO not captured due to low reliability index). Functional studies on this variant have not been carried out. This variant was found in 2/31948 control chromosomes at a frequency of 0.0000626, which does not exceed the maximal allele frequency of a pathogenic PMM2 variant (0.0055902). This variant has been reported in one patient with intellectual disability without a second pathogenic allele (Redin_2014) and authors predict the variant to be possibly benign. Because of limited clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available.

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