ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1101G>A (p.Leu367=)

gnomAD frequency: 0.00001  dbSNP: rs62508648
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV000758108 SCV000886582 uncertain significance Phenylketonuria 2023-07-23 reviewed by expert panel curation The c.1101G>A (p.Leu367=) variant in PAH is reported in an individual with Classic PKU, in trans with p.R243Q. (PMID: 16256386) This variant is absent in population databases. Two splicing algorthms predict a deleterious effect (Human splicing finder: potential alteration of splicing; MaxEnt scan: +571.94% Variation). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2_supporting, PM3, PP4, PP3.
Labcorp Genetics (formerly Invitae), Labcorp RCV000758108 SCV001601592 likely benign Phenylketonuria 2018-09-04 criteria provided, single submitter clinical testing
GeneDx RCV000088759 SCV001986174 uncertain significance not provided 2019-10-28 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Nucleotide substitution has no predicted effect on splicing and is not conserved across species; This variant is associated with the following publications: (PMID: 16256386, 32668217)
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088759 SCV000119343 not provided not provided no assertion provided not provided

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