ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1284_1285del (p.Asn428fs)

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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 RCV002595666 SCV003498377 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2022-12-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with POMT1-related conditions. This variant is present in population databases (rs766240294, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Asn450Lysfs*4) 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).
Revvity Omics, Revvity RCV003491254 SCV004238599 likely pathogenic not provided 2023-02-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV004572793 SCV005052412 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 2024-03-15 criteria provided, single submitter clinical testing

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