ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.-167G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000813204 SCV000953549 pathogenic Carbohydrate-deficient glycoprotein syndrome type I 2018-12-31 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the PMM2 gene. It does not change the encoded amino acid sequence of the PMM2 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed to segregate with hyperinsulinemic hypoglycemia and congenital polycystic kidney disease in multiple families (PMID: 28373276). This variant has been reported to affect PMM2 gene expression (PMID: 28373276). For these reasons, this variant has been classified as Pathogenic.

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