ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.841C>T (p.Gln281Ter)

gnomAD frequency: 0.00001  dbSNP: rs119462981
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kariminejad - Najmabadi Pathology & Genetics Center RCV001813941 SCV001755217 pathogenic Abnormality of the musculature 2021-07-10 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV000003395 SCV002578934 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 2022-03-24 criteria provided, single submitter clinical testing
GeneDx RCV003231073 SCV003929963 pathogenic not provided 2022-12-01 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Also known as p.Q164X; This variant is associated with the following publications: (PMID: 25525159, 31311558, 12369018, 33772059)
Baylor Genetics RCV000003395 SCV004204081 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 2021-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003764521 SCV004570141 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2023-03-07 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 3239). This premature translational stop signal has been observed in individual(s) with Walker-Warburg syndrome (PMID: 12369018, 31311558). This sequence change creates a premature translational stop signal (p.Gln303*) 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).
OMIM RCV000003395 SCV000023553 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 2002-11-01 no assertion criteria provided literature only

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