ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1030G>C (p.Gly344Arg)

dbSNP: rs62508679
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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 RCV001543645 SCV001762322 uncertain significance Phenylketonuria 2021-06-11 reviewed by expert panel curation The c.1030G>C (p.Gly344Arg) variant in PAH has been reported in 1 individual with with classic PKU, detected with pathogenic variant c.1315+1G>A (aka IVS12+1G>A, PMID: 23430918). This variant is absent in population databases. Multiple lines of computational evidence support a deleterious effect. Other missense changes at the same amino acid residue have been seen before (p.Gly344Val, p.Gly344Asp and p.Gly344Ser are likely pathogenic by PAH VCEP). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP3, PP4, PM2, PM3_supporting.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088711 SCV000119291 not provided not provided no assertion provided not provided

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