ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.629T>C (p.Met210Thr)

gnomAD frequency: 0.00001  dbSNP: rs369654108
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genetic Medicine Research, Children's National Medical Center RCV000228691 SCV000265825 uncertain significance not specified 2015-12-01 criteria provided, single submitter research
GeneDx RCV001596986 SCV001830852 uncertain significance not provided 2019-12-03 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Reported previously in the heterozygous state as a variant of uncertain significance, along with a NEB variant of uncertain significance, in a patient with congenital muscular dystrophy (Punetha et al., 2016); This variant is associated with the following publications: (PMID: 27854218)
Athena Diagnostics RCV000228691 SCV001880388 likely benign not specified 2021-04-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000228691 SCV002068523 uncertain significance not specified 2017-08-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002057057 SCV002408888 benign 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 2024-01-21 criteria provided, single submitter clinical testing

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