ClinVar Miner

Submissions for variant NM_000293.3(PHKB):c.134T>C (p.Leu45Pro)

dbSNP: rs762053276
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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 RCV002896181 SCV003639834 uncertain significance Inborn genetic diseases 2022-08-08 criteria provided, single submitter clinical testing The c.134T>C (p.L45P) alteration is located in exon 2 (coding exon 2) of the PHKB gene. This alteration results from a T to C substitution at nucleotide position 134, causing the leucine (L) at amino acid position 45 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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