Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
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. |
De |
RCV000088719 | SCV000119299 | not provided | not provided | no assertion provided | not provided |