ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.292T>G (p.Leu98Val)

dbSNP: rs1592978725
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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 RCV000993634 SCV001146766 likely pathogenic Phenylketonuria 2019-04-08 reviewed by expert panel curation The c.292T>G (p.Leu98Val) variant in PAH has been reported in multiple individuals with mild PKU (BH4 deficiency excluded). (PP4_Moderate; PMID: 26322415, 26503515). This variant is absent in population databases (PM2). This variant was detected in trans with p.R408W (P, 16 submitters) (PM3). Computational evidence is conflicting. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PM3.

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