ClinVar Miner

Submissions for variant NM_000293.3(PHKB):c.2464A>G (p.Ile822Val)

dbSNP: rs945657281
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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 RCV003198995 SCV003890731 uncertain significance Inborn genetic diseases 2023-01-24 criteria provided, single submitter clinical testing The c.2464A>G (p.I822V) alteration is located in exon 26 (coding exon 26) of the PHKB gene. This alteration results from a A to G substitution at nucleotide position 2464, causing the isoleucine (I) at amino acid position 822 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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