ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.97C>T (p.Arg33Ter)

gnomAD frequency: 0.00001  dbSNP: rs759848847
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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 RCV001893866 SCV002170665 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2023-05-02 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1399708). This variant is present in population databases (rs759848847, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Arg33*) 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).
Baylor Genetics RCV003475152 SCV004204059 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 2023-03-27 criteria provided, single submitter clinical testing

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