ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1837_1852dup (p.Gly618fs) (rs1315540509)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000811436 SCV000951703 pathogenic Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 2018-10-18 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the POMT1 gene (p.Gly640Alafs*96). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 108 amino acids of the POMT1 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with POMT1-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant disrupts the C-terminus of the POMT1 protein. Other variant(s) that disrupt this region (p.Asp723Glyfs*8) have been determined to be pathogenic (PMID: 12369018, 22323514, 17559086, 16575835, 24491487, 24304607). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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