ClinVar Miner

Submissions for variant NM_000294.3(PHKG2):c.1184C>T (p.Ala395Val)

gnomAD frequency: 0.00014  dbSNP: rs141025408
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001247940 SCV001421393 likely benign Glycogen storage disease IXc 2023-12-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002570363 SCV003568808 uncertain significance Inborn genetic diseases 2021-08-17 criteria provided, single submitter clinical testing The c.1184C>T (p.A395V) alteration is located in exon 10 (coding exon 9) of the PHKG2 gene. This alteration results from a C to T substitution at nucleotide position 1184, causing the alanine (A) at amino acid position 395 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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