ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.169C>T (p.Gln57Ter)

dbSNP: rs1945766589
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Reproductive Medicine, Peking University Third Hospital RCV001257391 SCV001433919 pathogenic Dysgenesis of the cerebellar vermis 2019-10-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003770344 SCV004578473 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2023-04-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 978656). This premature translational stop signal has been observed in individual(s) with clinical features of muscular dystrophy-dystroglycanopathy (PMID: 31680349). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln57*) in the POMT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in POMT1 are known to be pathogenic (PMID: 12369018, 15637732, 16575835).

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