ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1031G>T (p.Gly344Val)

dbSNP: rs62508582
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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 RCV000674226 SCV001762332 uncertain significance Phenylketonuria 2021-06-11 reviewed by expert panel curation The c.1031G>T (p.Gly344Val) variant in PAH has been reported in 2 siblings with classic PKU, detected with pathogenic variant p.R243Q. (PMID: 10679941). 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.Gly344Asp, p.Gly344Ser and p.Gly344Arg 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: PM2, PM3_supporting, PP3, PP4.
Counsyl RCV000674226 SCV000799528 uncertain significance Phenylketonuria 2018-04-24 criteria provided, single submitter clinical testing
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088713 SCV000119293 not provided not provided no assertion provided not provided

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