ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1023G>C (p.Lys341Asn)

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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 RCV002509875 SCV002818514 likely pathogenic Phenylketonuria 2022-07-30 reviewed by expert panel curation This c.1023 G>C (p.Lys341Asn) variant in PAH was seen in a patient with mPKU in trans with the pathogenic variant p.Ala434Asp (PMID: 28982351). This variant was found at a very low frequency in population databases. Multiple lines of computational evidence support a deleterious effect. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM3, PM2, PP3, PP4.

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