ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1004A>C (p.Lys335Thr)

dbSNP: rs281865434
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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 RCV000106338 SCV001370869 uncertain significance Phenylketonuria 2020-04-10 reviewed by expert panel curation The c.1004A>C (p.Lys335Thr) variant in PAH has not been reported in a patient to our knowledge. It was reported to BioPKU in 2013 by Namour B. 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.
Inserm U 954, Faculté de Médecine de Nancy RCV000106338 SCV000143837 probable-pathogenic Phenylketonuria no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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