ClinVar Miner

Submissions for variant NM_000293.3(PHKB):c.3153G>A (p.Met1051Ile)

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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 RCV005384406 SCV006044005 uncertain significance Inborn genetic diseases 2024-12-25 criteria provided, single submitter clinical testing The c.3153G>A (p.M1051I) alteration is located in exon 31 (coding exon 31) of the PHKB gene. This alteration results from a G to A substitution at nucleotide position 3153, causing the methionine (M) at amino acid position 1051 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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