ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.168G>A (p.Glu56=) (rs199475567)

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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 RCV001093508 SCV001250532 uncertain significance Phenylketonuria 2019-11-10 reviewed by expert panel curation The c.168G>A (p.Glu56=) variant in PAH has been reported as a polymoprhism. It was found in Arab patients' DNA, including patients and controls (zygosity not reported). (BS2; PMID: 18299955) However, this variant is absent from 1000G, ESP, ExAC and gnomAD (PM2). While it is a synonymous variant, alteration of the WT donor site affecting splicing is suggested by Human Splicing Finder and Alamut (PP3). It was observed in cis with a pathogenic variant, IVS2+1G>A (BP2; PMID: 24368688). In summary, this variant meets criteria to be classified as uncertain significance for PAH due to conflicting evidence. ACMG/AMP criteria applied: BS2, BP2, PM2, PP3.
PreventionGenetics,PreventionGenetics RCV000249357 SCV000303445 likely benign not specified criteria provided, single submitter clinical testing
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088851 SCV000119446 not provided not provided no assertion provided not provided

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