ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1089G>T (p.Lys363Asn)

dbSNP: rs63329263
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV000668925 SCV001572863 uncertain significance Phenylketonuria 2021-02-26 reviewed by expert panel curation The c.1089G>T (p.Lys363Asn) variant in PAH has been reported in 3 patients with mild HPA and mild PKU. A defect in the synthesis or regeneration pathways of 6R-BH4 was ruled out. It was detected in trans with pathogenic variants Phe55Leufs*6 (PMID: 27121329) and c.442-1G>A (PMID: 29316886). This variant is absent in population databases. However, multiple lines of computation evidence suggest no impact on the PAH protein. In summary, computational evidence conflicts with case level evidence and is therefore classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM3_strong, PP4_Moderate, PM2, BP4.
Counsyl RCV000668925 SCV000793603 uncertain significance Phenylketonuria 2017-08-25 criteria provided, single submitter clinical testing
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088750 SCV000119334 not provided not provided no assertion provided not provided

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