ClinVar Miner

Submissions for variant NM_000293.3(PHKB):c.2628C>G (p.Ile876Met)

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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 RCV004655935 SCV005154750 uncertain significance Inborn genetic diseases 2024-05-29 criteria provided, single submitter clinical testing The c.2628C>G (p.I876M) alteration is located in exon 26 (coding exon 26) of the PHKB gene. This alteration results from a C to G substitution at nucleotide position 2628, causing the isoleucine (I) at amino acid position 876 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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