ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.394C>T (p.His132Tyr)

dbSNP: rs137852292
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333356 SCV001525912 pathogenic Glycogen storage disease IXa1 2018-12-14 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported as disease causing in one family with multiple males and one female affected with X-linked liver glycogenosis subtype 2 [PMID 8733134]
OMIM RCV000011283 SCV000031511 pathogenic Glycogen storage disease IXa2 1996-05-01 no assertion criteria provided literature only

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