ClinVar Miner

Submissions for variant NM_000293.3(PHKB):c.3092C>G (p.Ala1031Gly)

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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 RCV004959581 SCV005473114 uncertain significance Inborn genetic diseases 2024-10-20 criteria provided, single submitter clinical testing The c.3092C>G (p.A1031G) alteration is located in exon 30 (coding exon 30) of the PHKB gene. This alteration results from a C to G substitution at nucleotide position 3092, causing the alanine (A) at amino acid position 1031 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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