ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.3590G>T (p.Cys1197Phe)

dbSNP: rs1569286164
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000785050 SCV000923604 uncertain significance Glycogen storage disease IXa1 2019-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002535715 SCV003586540 uncertain significance Inborn genetic diseases 2021-11-12 criteria provided, single submitter clinical testing The c.3590G>T (p.C1197F) alteration is located in exon 33 (coding exon 33) of the PHKA2 gene. This alteration results from a G to T substitution at nucleotide position 3590, causing the cysteine (C) at amino acid position 1197 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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