ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.464G>C (p.Arg155Pro) (rs199475663)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV000675156 SCV000852116 likely pathogenic Phenylketonuria 2018-08-10 reviewed by expert panel curation PAH-specific ACMG/AMP criteria applied: PM2: absent from ExAC, gnomAD, 1000G, ESP. PAGE MAF=0.00066; PP3: Deleterious effect predicted in SIFT, Polyphen-2, MutationTaster. REVEL=0.967; PP4_Moderate: Detected in a patient with classic PKU. Cofactor deficiency excluded. (PMID:10679941); PM3: Detected in trans with R408W (P) (PMID:10679941). In summary this variant meets criteria to be classified as likely pathogenic for phenylketonuria in an autosomal recessive manner based on the ACMG/AMP criteria applied as specified by the PAH Expert Panel: (PM2, PP3, PP4_Moderate, PM3).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000088935 SCV000230889 uncertain significance not provided 2015-09-29 criteria provided, single submitter clinical testing
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088935 SCV000119535 not provided not provided no assertion provided not provided
Counsyl RCV000675156 SCV000800771 likely pathogenic Phenylketonuria 2017-06-20 no assertion criteria provided clinical testing

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