ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.190del (p.Tyr64fs)

dbSNP: rs1339004837
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670499 SCV000795356 likely pathogenic PMM2-congenital disorder of glycosylation 2017-11-03 criteria provided, single submitter clinical testing
Invitae RCV000670499 SCV001203909 pathogenic PMM2-congenital disorder of glycosylation 2023-11-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr64Thrfs*11) 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 (no rsID available, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with congenital disorders of glycosylation (PMID: 28139241). ClinVar contains an entry for this variant (Variation ID: 554804). 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.
Fulgent Genetics, Fulgent Genetics RCV000670499 SCV001752707 pathogenic PMM2-congenital disorder of glycosylation 2021-06-30 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV003411579 SCV004114357 likely pathogenic PMM2-related condition 2022-09-20 criteria provided, single submitter clinical testing The PMM2 c.190delT variant is predicted to result in a frameshift and premature protein termination (p.Tyr64Thrfs*11). This variant was reported in an individual with congenital disorder of glycosylation 1a (Pérez-Cerdá et al. 2017. PubMed ID: 28139241). This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-8898634-AT-A). Frameshift variants in PMM2 are expected to be pathogenic. This variant is interpreted as likely pathogenic.
Baylor Genetics RCV000670499 SCV004205310 likely pathogenic PMM2-congenital disorder of glycosylation 2022-12-13 criteria provided, single submitter clinical testing

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