ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.520A>G (p.Ile174Val) (rs199475632)

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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, RCV000675155 SCV000852115 likely pathogenic Phenylketonuria 2018-08-10 reviewed by expert panel curation PAH-specific ACMG/AMP criteria applied: PM2: Not found in any population databases; PP3: All predictors agree--damaging; PM3: Single patient IVS4+5G>T (null) / I174V (Bercovich 2008 PMID 18299955) (PMID:18299955); PP4: Two independent patients (one in Zschocke (PMID 10394930) and one in Bercovich (PMID 18299955) with "PKU". While no specific levels are mentioned, they are followed in clinic and were diagnosed with Phe >120umol/L. BH4 defect WAS NOT excluded in either paper.. 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, PM3, PP4).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000088968 SCV000203187 uncertain significance not provided 2015-09-29 criteria provided, single submitter clinical testing
Counsyl RCV000675155 SCV000800768 likely pathogenic Phenylketonuria 2017-06-02 criteria provided, single submitter clinical testing
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088968 SCV000119571 not provided not provided no assertion provided not provided

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