ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.633C>G (p.Tyr211Ter)

dbSNP: rs747129906
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001784872 SCV002019491 pathogenic not provided 2019-06-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002544255 SCV003245837 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2022-11-15 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1323489). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with POMT1-related conditions. This variant is present in population databases (rs747129906, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Tyr211*) 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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