ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.67-1G>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002997008 SCV003312265 pathogenic PMM2-congenital disorder of glycosylation 2023-07-13 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 1 of the PMM2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PMM2 are known to be pathogenic (PMID: 19862844). This variant is present in population databases (rs780588364, gnomAD 0.007%). Disruption of this splice site has been observed in individual(s) with congenital disorder of glycosylation type 1a (PMID: 11350185). ClinVar contains an entry for this variant (Variation ID: 2094293). 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 RCV002997008 SCV004205255 likely pathogenic PMM2-congenital disorder of glycosylation 2023-09-28 criteria provided, single submitter clinical testing

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