ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.969A>G (p.Thr323=)

dbSNP: rs199475637
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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 RCV000672139 SCV001762314 uncertain significance Phenylketonuria 2021-02-13 reviewed by expert panel curation The c.969A>G (p.Thr323=) variant in PAH has been found in a patient with PAH deficiency in cis with pathogenic variant IVS2–13T→G (PMID: 10394930). This variant has an extremely low frequency in gnomAD (MAF=0.00001). Splicing predictions are conflicting (HSF/MaxENT: probably no impact; TRAP 0.831: probably damaging). A functional study shows no significant effect on protein activity as compared to wild type (Relative PAH activity 114 +/-18, PMID: 18590700). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, BS3_supporting.
Counsyl RCV000672139 SCV000797208 uncertain significance Phenylketonuria 2018-01-16 criteria provided, single submitter clinical testing
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000089183 SCV000119798 not provided not provided no assertion provided not provided

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