ClinVar Miner

Submissions for variant NM_000317.3(PTS):c.166GTG[1] (p.Val57del) (rs770387277)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666747 SCV000791097 likely pathogenic BH4-deficient hyperphenylalaninemia A 2017-04-21 criteria provided, single submitter clinical testing
Invitae RCV000666747 SCV001580128 pathogenic BH4-deficient hyperphenylalaninemia A 2020-10-07 criteria provided, single submitter clinical testing This variant, c.169_171del, results in the deletion of 1 amino acid(s) of the PTS protein (p.Val57del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs770387277, ExAC 0.009%). This variant has been observed in individual(s) with 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency (PMID: 30926181, 7493990, 11438997). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 551630). This variant has been reported to affect PTS protein function (PMID: 7493990). For these reasons, this variant has been classified as Pathogenic.

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