ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1219C>T (p.Pro407Ser)

dbSNP: rs62644465
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672236 SCV000797326 likely pathogenic Phenylketonuria 2018-01-23 criteria provided, single submitter clinical testing
Invitae RCV000672236 SCV001583012 pathogenic Phenylketonuria 2021-01-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been reported to have conflicting or insufficient data to determine the effect on PAH protein function (PMID: 17935162, 15557004). This variant has been observed in individual(s) with hyperphenylalaninemia (PMID: 15503242,9359039, 14681498, 14726806, 10484807). ClinVar contains an entry for this variant (Variation ID: 102568). This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with serine at codon 407 of the PAH protein (p.Pro407Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088802 SCV000119391 not provided not provided no assertion provided not provided

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