ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1195dup (p.Leu399fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003463366 SCV004206064 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 2024-01-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003779072 SCV004577130 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2023-12-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu421Profs*13) in the POMT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in POMT1 are known to be pathogenic (PMID: 12369018, 15637732, 16575835). This variant is present in population databases (rs749018170, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with POMT1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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