ClinVar Miner

Submissions for variant NM_002637.4(PHKA1):c.2023C>G (p.Pro675Ala)

dbSNP: rs377254543
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001509122 SCV001715662 uncertain significance not provided 2019-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV003284361 SCV003971935 uncertain significance Inborn genetic diseases 2023-04-27 criteria provided, single submitter clinical testing The c.2023C>G (p.P675A) alteration is located in exon 19 (coding exon 19) of the PHKA1 gene. This alteration results from a C to G substitution at nucleotide position 2023, causing the proline (P) at amino acid position 675 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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