ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1199+50G>A

dbSNP: rs369574052
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV001543656 SCV001762334 uncertain significance Phenylketonuria 2020-09-04 reviewed by expert panel curation The c.1199+50G>A intronic variant has been reported homozygous in a Kurdish patient with classic PKU (PMID: 24048906), diagnosed by plasma Phe levels with BH4 deficiency excluded. However, this patient is also homozygous for c.441+1G>C (ClinVar 556894, Pathogenic). The c.1199+50G>A variant is present a low frequency in gnomAD with a MAF of 0.000008870 in the South Asian population but it is not highly conserved and is not predicted to have a deleterious effect. Splicing predictors are in consensus that there is no significant impact on splicing signals. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, BP7.

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