ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1076C>T (p.Ser359Leu)

dbSNP: rs5030854
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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 RCV001789823 SCV002032219 likely pathogenic Phenylketonuria 2020-06-19 reviewed by expert panel curation The c.1076C>T (p.Ser359Leu) variant in PAH has been reported in multiple individuals with classic PKU (BH4 deficiency excluded). (PMID: 26503515). This variant is absent in population databases. This variant was detected in trans with pathogenic variant p.T278I in 2 patients (PMID: 30050108). Computational evidence supports a deleterious effect. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PM3_strong, PP3.
Baylor Genetics RCV001789823 SCV004209651 likely pathogenic Phenylketonuria 2023-06-21 criteria provided, single submitter clinical testing

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