ClinVar Miner

Submissions for variant NM_000317.3(PTS):c.260C>T (p.Pro87Leu) (rs765406631)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669353 SCV000794099 likely pathogenic BH4-deficient hyperphenylalaninemia A 2017-09-13 criteria provided, single submitter clinical testing
Invitae RCV000669353 SCV000948043 pathogenic BH4-deficient hyperphenylalaninemia A 2019-08-01 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 87 of the PTS protein (p.Pro87Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs765406631, ExAC 0.003%). This variant has been observed in individuals affected with biopterin deficient hyperphenylalanemia (PMID: 11388593, 7493990, 11694255, 10319579, 19350512). Experimental studies have shown that this missense change results in a PTS protein with reduced enzymatic activity (PMID: 7493990, 11388593, 10319579). For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091031 SCV001246863 pathogenic not provided 2017-08-01 criteria provided, single submitter clinical testing

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