ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.284del (p.Leu95fs)

gnomAD frequency: 0.00001  dbSNP: rs757865122
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000779199 SCV000915734 uncertain significance PMM2-congenital disorder of glycosylation 2018-10-10 criteria provided, single submitter clinical testing The PMM2 c.284delT (p.Leu95GlnfsTer5) variant results in a frameshift and is predicted to result in an absent or truncated protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The p.Leu95GlnfsTer5 variant is reported at a frequency of 0.000027 in the European (non-Finnish) population of the Genome Aggregation Database. Due to the potential impact of frameshift variants and the lack of clarifying evidence, the p.Leu95GlnfsTer5 variant is classified as a variant of unknown significance but suspicious for pathogenicity for congenital disorders of glycosylation. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Labcorp Genetics (formerly Invitae), Labcorp RCV000779199 SCV001592693 pathogenic PMM2-congenital disorder of glycosylation 2023-12-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu95Glnfs*5) in the PMM2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PMM2 are known to be pathogenic (PMID: 19862844). This variant is present in population databases (rs757865122, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with PMM2-related conditions. ClinVar contains an entry for this variant (Variation ID: 632265). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000779199 SCV004205286 pathogenic PMM2-congenital disorder of glycosylation 2024-02-13 criteria provided, single submitter clinical testing

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