ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.678G>C (p.Gln226His)

dbSNP: rs62508615
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001854514 SCV002246013 pathogenic Phenylketonuria 2021-11-04 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 226 of the PAH protein (p.Gln226His). This missense change has been observed in individual(s) with phenylketonuria (PMID: 11678552, 22513348, 32668217). For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PAH protein function. ClinVar contains an entry for this variant (Variation ID: 102783).
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000089034 SCV000119639 not provided not provided no assertion provided not provided

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