ClinVar Miner

Submissions for variant NM_000293.3(PHKB):c.1840C>T (p.Arg614Cys)

dbSNP: rs369109156
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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 RCV003174086 SCV003868246 uncertain significance Inborn genetic diseases 2023-03-01 criteria provided, single submitter clinical testing The c.1840C>T (p.R614C) alteration is located in exon 19 (coding exon 19) of the PHKB gene. This alteration results from a C to T substitution at nucleotide position 1840, causing the arginine (R) at amino acid position 614 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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