ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1474C>T (p.Arg492Ter)

gnomAD frequency: 0.00001  dbSNP: rs119462985
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000760355 SCV000226310 pathogenic not provided 2014-03-20 criteria provided, single submitter clinical testing
GeneDx RCV000760355 SCV000890215 pathogenic not provided 2023-12-29 criteria provided, single submitter clinical testing Identified in unrelated individuals with POMT1-related dystroglycanopathy in published literature (PMID: 16717220, 16575835); 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); This variant is associated with the following publications: (PMID: 25525159, 16717220, 16575835, 31311558, 34426522, 21928031, 30454682, 17161965)
Labcorp Genetics (formerly Invitae), Labcorp RCV001851614 SCV002231823 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2024-01-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg514*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with muscular dystrophy-dystroglycanopathy (PMID: 16717220, 31311558). This variant is also known as p.Arg541*. ClinVar contains an entry for this variant (Variation ID: 3245). 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.
OMIM RCV002286390 SCV000023559 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 2006-05-01 no assertion criteria provided literature only

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