ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.793T>C (p.Cys265Arg)

gnomAD frequency: 0.00001  dbSNP: rs62517181
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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 RCV002260497 SCV002540154 uncertain significance Phenylketonuria 2022-03-13 reviewed by expert panel curation The c.793T>C (p.Cys265Arg) variant in PAH is reported in at least 1 Chinese patient with PAH deficiency (BH4 deficiency ruled out, PMID: 23932990). It was detected in trans with a variant of unknown significance, p.Arg53His (PMID: 30050108). This variant is absent in population databases. Multiple lines of computational evidence support a deleterious effect. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP3, PP4_moderate.

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