ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1092_1106del (p.Leu365_Leu369del)

dbSNP: rs62516097
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV000000651 SCV001572849 likely pathogenic Phenylketonuria 2019-05-04 reviewed by expert panel curation The c.1092_1106del (p.Leu365_Leu369del) variant in PAH has been reported in 1 individual with PKU (PP4; PMID: 1363837) in trans with pathogenic variant p.R408W (PM3). This variant is absent in population databases (PM2). This variant is a 15 bp in-frame deletion in exon 11 (PM4). In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4, PM2, PM3, PM4.
OMIM RCV000000651 SCV000020801 pathogenic Phenylketonuria 1992-12-01 no assertion criteria provided literature only
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088753 SCV000119337 not provided not provided no assertion provided not provided

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