ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.185T>C (p.Leu62Pro)

dbSNP: rs1877437661
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV001093519 SCV001250554 likely pathogenic Phenylketonuria 2020-01-29 reviewed by expert panel curation The c.185T>C (p.Leu62Pro) variant in PAH has been reported in 1 individual with classic PKU (BH4 deficiency not assessed/reported). (PP4; PMID: 22513348). This variant is absent in population databases (PM2). This variant was detected with p.R408W (Pathogenic in ClinVar) (PM3; PMID: 22513348). Multiple lines of computational evidence support a deleterious effect (PP3). In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4, PM2, PM3, PP3.

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