ClinVar Miner

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

gnomAD frequency: 0.00004  dbSNP: rs202202445
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Total submissions: 6
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV000648160 SCV000769974 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2022-10-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg745*) in the POMT1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 3 amino acid(s) of the POMT1 protein. This variant is present in population databases (rs202202445, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected 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 Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 2018-10-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001531744 SCV001747009 uncertain significance not provided 2021-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002517121 SCV003712012 uncertain significance Inborn genetic diseases 2021-12-03 criteria provided, single submitter clinical testing Not expected to trigger nonsense-mediated mRNA decay Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001531744 SCV003811836 uncertain significance not provided 2022-08-31 criteria provided, single submitter clinical testing

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