ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.689T>G (p.Val230Gly)

dbSNP: rs199475673
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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 RCV001789761 SCV002032217 uncertain significance Phenylketonuria 2020-08-20 reviewed by expert panel curation The c.689T>G (p.Val230Gly) variant in PAH was reported to the McGill PAHdb by Carducci in 1999, but has not been found in the literature. This variant is absent in population databases. Multiple lines of computational evidence support a deleterious effect. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP3.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000089036 SCV000119641 not provided not provided no assertion provided not provided

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