ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.1237C>T (p.Arg413Ter)

gnomAD frequency: 0.00001  dbSNP: rs773017813
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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 RCV001386284 SCV001586461 pathogenic 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 2023-09-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1073316). This premature translational stop signal has been observed in individual(s) with dystroglycanopathy (PMID: 33200426). This variant is present in population databases (no rsID available, gnomAD 0.009%). This sequence change creates a premature translational stop signal (p.Arg413*) in the POMT2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in POMT2 are known to be pathogenic (PMID: 15894594).
Baylor Genetics RCV003473965 SCV004204125 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 2022-07-28 criteria provided, single submitter clinical testing

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