ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter) (rs200056620)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081477 SCV000225644 pathogenic not provided 2014-11-04 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000081477 SCV000280652 pathogenic not provided 2015-07-14 criteria provided, single submitter clinical testing
GeneDx RCV000081477 SCV000329730 pathogenic not provided 2018-06-20 criteria provided, single submitter clinical testing The Q385X pathogenic variant in the POMT1 gene has been reported previously in the homozygous state in monozygotic twins with features consistent with Walker-Warburg syndrome (Beltran-Valero et al., 2002). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q385X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret Q385X as a pathogenic variant.
Institute of Human Genetics,Klinikum rechts der Isar RCV000578428 SCV000680345 pathogenic Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 2017-12-13 criteria provided, single submitter clinical testing
Invitae RCV000686940 SCV000814481 pathogenic Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 2018-07-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln385*) in the POMT1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs200056620, ExAC 0.008%). This variant has been observed to be homozygous or in combination with another POMT1 variant in individuals affected with Walker-Warburg syndrome (PMID: 12369018, 28116189). ClinVar contains an entry for this variant (Variation ID: 95452). Loss-of-function variants in POMT1 are known to be pathogenic (PMID: 12369018, 15637732, 16575835). For these reasons, this variant has been classified as Pathogenic.

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