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 2024-02-29 criteria provided, single submitter clinical testing 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). This variant is present in population databases (no rsID available, gnomAD 0.009%). This premature translational stop signal has been observed in individual(s) with dystroglycanopathy (PMID: 33200426). ClinVar contains an entry for this variant (Variation ID: 1073316). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
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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