ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.353-6T>A

dbSNP: rs62517195
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV001269055 SCV001448250 pathogenic Phenylketonuria 2020-07-25 reviewed by expert panel curation (PAH):c.353-6T>A is an intronic variant predicted to be splice altering/deleterious by multiple lines of in silico data. This variant was reported in trans with the pathogenic variant p.Tyr414Cys in a patient with mild PKU in a Norwegian cohort (PMID 8807331). This variant was confirmed to be de novo by parental sequencing (PMID 8807331). (PAH):c.353-6T>A is absent from population databases. In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PS2, PM2, PM3, PP3, and PP4.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088902 SCV000119500 not provided not provided no assertion provided not provided

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