ClinVar Miner

Submissions for variant NM_032237.5(POMK):c.565A>G (p.Ile189Val)

gnomAD frequency: 0.00057  dbSNP: rs149297443
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500315 SCV000597026 uncertain significance not specified 2017-04-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000543981 SCV000654040 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Limb-girdle muscular dystrophy due to POMK deficiency 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001696977 SCV000725998 likely benign not provided 2021-03-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV001335201 SCV001528289 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 2018-08-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV003159631 SCV003869984 likely benign Inborn genetic diseases 2023-02-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003979901 SCV004794758 likely benign POMK-related disorder 2022-02-09 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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