ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.552G>T (p.Lys184Asn)

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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 RCV004823287 SCV005442785 likely pathogenic Phenylketonuria 2024-11-17 reviewed by expert panel curation The c.552G>T (p.Lys184Asn) variant in PAH is a missense variant predicted to cause substitution of lysine by asparagine at amino acid 184. It has been detected in a patient with phenylketonuria with pathogenic variant c.442-1G>A, phase unconfirmed (PMID: 25456745). This variant is absent in population databases. Multiple lines of computational evidence support a deleterious effect (REVEL= 0.827). In summary, this variant is classified as likely pathogenic due to insufficient evidence based on the ACMG/AMP criteria applied, as specified by the ClinGen PAH VCEP: PM2_supporting, PM3_supporting, PP3_moderate, PP4_moderate.

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