ClinVar Miner

Submissions for variant NM_032237.5(POMK):c.902T>C (p.Met301Thr)

gnomAD frequency: 0.00181  dbSNP: rs33920561
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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 RCV000540312 SCV000654051 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Limb-girdle muscular dystrophy due to POMK deficiency 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV001591279 SCV001826842 likely benign not provided 2019-06-14 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genetic Services Laboratory, University of Chicago RCV001821615 SCV002071504 likely benign not specified 2020-03-06 criteria provided, single submitter clinical testing

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