ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1039C>T (p.Leu347Phe)

dbSNP: rs62516154
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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 RCV001543642 SCV001762315 likely pathogenic Phenylketonuria 2024-11-17 reviewed by expert panel curation The c.1039C>T (p.Leu347Phe) variant in PAH has been reported twice in patients with PAH deficiency with BH4 deficiency excluded (PMID: 8659548, 21147011) (PP4_Moderate). One of these individuals was homozygous for the variant (PMID: 21147011) (PM3_Supporting). This variant is absent in population databases (PM2_Supporting). Multiple lines of computational evidence support a deleterious effect, including REVEL score 0.951 (PP3_Strong). In summary, this variant meets criteria to be classified as likely pathogenic for phenylketonuria in an autosomal recessive manner based on the ACMG/AMP criteria applied as specified by the PAH Expert Panel: PM2_Supporting, PP4_Moderate, PM3_Supporting, PP3_Strong.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088719 SCV000119299 not provided not provided no assertion provided not provided

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