ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1243G>T (p.Asp415Tyr)

dbSNP: rs62644499
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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 RCV001789809 SCV002032187 pathogenic Phenylketonuria 2021-10-10 reviewed by expert panel curation The c.1243G>T (p.Asp415Tyr) variant in PAH has been reported in multiple individuals with PAH deficiency (BH4 deficiency excluded, PMID: 21462123, 26503515). This variant is absent in population databases. This variant was detected in trans with pathogenic variants: p.Val399= (PMID: 28982351); and p.Ala345Thr (LP by PAH VCEP, PMID: 30050108). Computational evidence support a deleterious effect. Another missense change at the same amino acid (p.Asp415Asn) is interpreted as pathogenic by multiple submitters. In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PM3_Strong, PM5, PP3.

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