ClinVar Miner

Submissions for variant NM_000317.3(PTS):c.186+1G>T

gnomAD frequency: 0.00001  dbSNP: rs1256819927
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672251 SCV000797342 likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2018-01-29 criteria provided, single submitter clinical testing
Invitae RCV000672251 SCV001588738 pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2020-09-10 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 3 of the PTS gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Disruption of this splice site has been observed in individual(s) with PTS-related conditions (PMID: 11438997, 23138986). ClinVar contains an entry for this variant (Variation ID: 556264). Experimental studies have shown that disruption of this splice site alters mRNA splicing (PMID: 11438997). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PTS are known to be pathogenic (PMID: 3297709, 16917893). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000672251 SCV002014502 pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2021-09-05 criteria provided, single submitter clinical testing

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