ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.2167C>T (p.Arg723Ter) (rs202202445)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193061 SCV000248586 uncertain significance not specified 2015-02-12 criteria provided, single submitter clinical testing
Invitae RCV000648160 SCV000769974 uncertain significance Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 2019-12-12 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the POMT1 gene (p.Arg745*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 3 amino acids of the POMT1 protein. This variant is present in population databases (rs202202445, ExAC 0.04%). This variant has not been reported in the literature in individuals with POMT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 211946). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics,Fulgent Genetics RCV000764809 SCV000895954 uncertain significance Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 2018-10-31 criteria provided, single submitter clinical testing

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