ClinVar Miner

Submissions for variant NM_000293.3(PHKB):c.1435G>A (p.Val479Met)

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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 RCV004959575 SCV005473102 uncertain significance Inborn genetic diseases 2024-08-20 criteria provided, single submitter clinical testing The c.1435G>A (p.V479M) alteration is located in exon 14 (coding exon 14) of the PHKB gene. This alteration results from a G to A substitution at nucleotide position 1435, causing the valine (V) at amino acid position 479 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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