ClinVar Miner

Submissions for variant NM_003863.4(DPM2):c.139C>T (p.Arg47Ter)

dbSNP: rs549450795
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001375849 SCV002235825 pathogenic Congenital muscular dystrophy with intellectual disability and severe epilepsy 2022-06-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1065328). This premature translational stop signal has been observed in individual(s) with congenital disorders of glycosylation (PMID: 33129689). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg47*) in the DPM2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DPM2 are known to be pathogenic (PMID: 23109149).
Fulgent Genetics, Fulgent Genetics RCV001375849 SCV002799868 likely pathogenic Congenital muscular dystrophy with intellectual disability and severe epilepsy 2022-05-16 criteria provided, single submitter clinical testing
OMIM RCV001375849 SCV001572776 pathogenic Congenital muscular dystrophy with intellectual disability and severe epilepsy 2021-04-29 no assertion criteria provided literature only

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