ClinVar Miner

Submissions for variant NM_018129.4(PNPO):c.139-4C>G

gnomAD frequency: 0.00002  dbSNP: rs766668907
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251975 SCV000313158 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV002317786 SCV000851094 uncertain significance Inborn genetic diseases 2016-06-30 criteria provided, single submitter clinical testing The c.139-4C>G intronic variant results from a C to G substitution 4 nucleotides upstream from coding exon 2 in the PNPO gene. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This nucleotide position is well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001439801 SCV001642695 likely benign Pyridoxal phosphate-responsive seizures 2024-01-16 criteria provided, single submitter clinical testing

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