ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.743T>G (p.Leu248Arg)

dbSNP: rs62507340
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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 RCV002259594 SCV002540125 uncertain significance Phenylketonuria 2020-11-13 reviewed by expert panel curation The c.743T>G (p.Leu248Arg) variant in PAH has not been reported in an affected patient to our knowledge. 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 RCV000089075 SCV000119681 not provided not provided no assertion provided not provided

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