ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.*26C>T

gnomAD frequency: 0.00005  dbSNP: rs138528126
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000335918 SCV000399684 uncertain significance PMM2-congenital disorder of glycosylation 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000335918 SCV003519951 uncertain significance PMM2-congenital disorder of glycosylation 2020-08-05 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. This variant is present in population databases (rs138528126, ExAC 0.02%). This variant has been observed in an individual affected with fetal alcohol syndrome who also had 22q11.2 deletion syndrome (PMID: 28820871). ClinVar contains an entry for this variant (Variation ID: 321224). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of this non-coding change is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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