ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.764T>C (p.Leu255Ser) (rs62642930)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000000631 SCV000795922 likely pathogenic Phenylketonuria 2017-11-30 criteria provided, single submitter clinical testing
Invitae RCV000000631 SCV001395954 pathogenic Phenylketonuria 2019-07-19 criteria provided, single submitter clinical testing This sequence change replaces leucine with serine at codon 255 of the PAH protein (p.Leu255Ser). The leucine residue is highly conserved and there is a large physicochemical difference between leucine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with hyperphenylalaninemia (PMID: 2014802, 29317692). 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: 600). This variant has been reported to affect PAH protein function (PMID: 21953985). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000000631 SCV000020781 pathogenic Phenylketonuria 1991-04-01 no assertion criteria provided literature only
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000089083 SCV000119689 not provided not provided no assertion provided not provided

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