ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.129_131del (p.Arg44del)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002816090 SCV003206983 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N 2022-06-10 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with POMT2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant, c.129_131del, results in the deletion of 1 amino acid(s) of the POMT2 protein (p.Arg44del), but otherwise preserves the integrity of the reading frame.
Revvity Omics, Revvity RCV003130764 SCV003809796 uncertain significance not provided 2022-06-20 criteria provided, single submitter clinical testing

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