ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.639C>A (p.Tyr213Ter)

gnomAD frequency: 0.00001  dbSNP: rs764878423
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597859 SCV000706637 pathogenic not provided 2017-02-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003767385 SCV004579327 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 2023-09-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr213*) 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 (rs764878423, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with POMT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 500611). For these reasons, this variant has been classified as Pathogenic.

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