ClinVar Miner

Submissions for variant NM_000294.3(PHKG2):c.671_672delinsAA (p.Phe224Ter)

dbSNP: rs1555467557
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000647369 SCV000769164 pathogenic Glycogen storage disease IXc 2017-11-12 criteria provided, single submitter clinical testing Loss-of-function variants in PHKG2 are known to be pathogenic (PMID: 8896567, 17689125, 21646031). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with PHKG2-related disease. This sequence change creates a premature translational stop signal (p.Phe224*) in the PHKG2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency).
Ambry Genetics RCV003362877 SCV004083859 pathogenic Inborn genetic diseases 2023-07-25 criteria provided, single submitter clinical testing The c.671_672delTCinsAA (p.F224*) alteration, located in exon 8 (coding exon 7) of the PHKG2 gene, consists of a deletion of 2 and insertion of 2 nucleotides at position 671 to 672. This changes the amino acid from a phenylalanine (F) to a stop codon at amino acid position 224. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the available evidence, this alteration is classified as pathogenic.

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