ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.895_897del (p.Phe299del) (rs62507267)

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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 RCV000993623 SCV001146751 uncertain significance Phenylketonuria 2019-07-14 reviewed by expert panel curation The c.895_897del (p.Phe299del) variant in PAH has been reported in 1 individual with PKU without genotype information (BH4 deficiency not ruled out) (PMID: 10541324) . This variant is absent in gnomAD and the ESP population databases. The c.895_897del variant results in an in-frame deletion of phenylalanine 299 in a hydrophobic pocket of the hydroxylase domain of PAH. In summary, this variant meets the criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4, PM2, PM4.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000089147 SCV000119759 not provided not provided no assertion provided not provided

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