ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.1670C>G (p.Thr557Arg)

gnomAD frequency: 0.00038  dbSNP: rs201183167
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000886916 SCV001030445 benign Glycogen storage disease IXa1 2023-07-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000886916 SCV002807838 likely benign Glycogen storage disease IXa1 2022-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002539357 SCV003557974 likely benign Inborn genetic diseases 2021-09-27 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.
CeGaT Center for Human Genetics Tuebingen RCV003438557 SCV004166677 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing PHKA2: BS2

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