ClinVar Miner

Submissions for variant NM_000293.3(PHKB):c.2420G>C (p.Gly807Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004655932 SCV005154746 uncertain significance Inborn genetic diseases 2024-04-19 criteria provided, single submitter clinical testing The c.2420G>C (p.G807A) alteration is located in exon 25 (coding exon 25) of the PHKB gene. This alteration results from a G to C substitution at nucleotide position 2420, causing the glycine (G) at amino acid position 807 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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