ClinVar Miner

Submissions for variant NM_000317.3(PTS):c.393del (p.Val132fs) (rs780332520)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672138 SCV000797206 likely pathogenic BH4-deficient hyperphenylalaninemia A 2018-01-16 criteria provided, single submitter clinical testing
Invitae RCV000672138 SCV001401258 pathogenic BH4-deficient hyperphenylalaninemia A 2020-03-19 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the PTS gene (p.Val132Tyrfs*19). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 14 amino acids of the PTS protein and extend the protein by an additional 4 amino acids. This variant is present in population databases (rs780332520, ExAC 0.002%). This variant has been observed in combination with another PTS variant in individuals affected with biopterin-deficient hyperphenylalaninemia (PMID: 19280650, 20059486). ClinVar contains an entry for this variant (Variation ID: 556173). For these reasons, this variant has been classified as Pathogenic.

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