ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1175T>C (p.Phe392Ser)

dbSNP: rs199475695
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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 RCV001269040 SCV001448231 likely pathogenic Phenylketonuria 2024-11-17 reviewed by expert panel curation The c.1175T>C (p.Phe392Ser) variant in PAH was reported in one individual with PAH deficiency; however, this report was non-English article that is not accessible and thus cannot be used as case-level evidence at this time (PMID: 22333022). This variant is absent from gnomAD v2.1.1 (PM2_Supporting), and is predicted damaging by REVEL = 0.98 (PP3_Strong). A different missense variant at the same position, p.F392I, is reported as pathogenic in ClinVar (VarID: 853581) (PM5). In summary, this variant meets criteria to be classified as likely pathogenic for phenylketonuria in an autosomal recessive manner based on the ACMG/AMP criteria applied as specified by the PAH Expert Panel: PM2_Supporting, PM5, PP3_Strong.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088778 SCV000119364 not provided not provided no assertion provided not provided

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