ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.1051del (p.Ala351fs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003788653 SCV004570404 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 2023-06-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with POMT2-related conditions (PMID: 17559086, 17878207). This variant is present in population databases (rs754755294, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Ala351Profs*47) 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 RCV004573303 SCV005052432 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 2024-02-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003788653 SCV005635515 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 2024-05-17 criteria provided, single submitter clinical testing

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