ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.163_165del (p.Phe55del)

dbSNP: rs199475631
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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 RCV002509217 SCV002818502 likely pathogenic Phenylketonuria 2022-12-09 reviewed by expert panel curation This c.163_165del (p.Phe55del) variant in PAH was detected in trans with the c.168+5G>C and p.Phe39Leu pathogenic variants in multiple individuals with PKU (PMID:28676969, 17513426). This variant is absent in population databases. This in-frame variant is not found in a repetitive region and does not cause a stop-loss. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM3, PP4, PM4
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088844 SCV000119437 not provided not provided no assertion provided not provided

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