ClinVar Miner

Submissions for variant NM_000317.3(PTS):c.83+1G>A (rs927103678)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668151 SCV000792703 likely pathogenic BH4-deficient hyperphenylalaninemia A 2017-07-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000668151 SCV000914487 uncertain significance BH4-deficient hyperphenylalaninemia A 2017-04-27 criteria provided, single submitter clinical testing The PTS gene is the only in which variants are known to cause 6-pyruvoyltetrahydropterin synthase deficiency. The PTS c.83+1G>A variant occurs in a canonical splice site (donor) and is therefore predicted to disrupt or distort the normal gene product. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, the Exome Aggregation Consortium or the Genome Aggregation Database. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of splice donor variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for 6-pyruvoyltetrahydropterin synthase deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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