ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1003A>G (p.Lys335Glu)

dbSNP: rs886042068
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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 RCV002259759 SCV002540144 uncertain significance Phenylketonuria 2021-02-11 reviewed by expert panel curation This c.1003A>G (p.Lys335Glu) variant in PAH was reported 1 time in a patient with PAH deficiency (>120 μmol/L Phe, BH4 deficiency ruled out (PMID: 26503515). Computational evidence for this missense variant is conflicting: damaging (SIFT), disease-causing (MutationTaster) and benign (PolyPhen2). This variant is absent from population databases gnomAD, 1000 Genomes, and ESP. In summary, this variant meets criteria to be classified as a variant of uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP4_moderate, PM2.
Eurofins Ntd Llc (ga) RCV000295704 SCV000330987 uncertain significance not provided 2015-09-29 criteria provided, single submitter clinical testing

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