ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.1396G>A (p.Ala466Thr)

gnomAD frequency: 0.00045  dbSNP: rs144591812
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000320935 SCV000336925 benign not specified 2015-11-13 criteria provided, single submitter clinical testing
GeneDx RCV000320935 SCV000715760 likely benign not specified 2017-02-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002059152 SCV002325343 benign Glycogen storage disease IXa1 2023-12-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021159 SCV005002746 benign Inborn genetic diseases 2022-05-09 criteria provided, single submitter clinical testing This alteration is classified as 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.

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