ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.440C>T (p.Pro147Leu) (rs199475694)

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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 RCV000595460 SCV001146725 likely pathogenic Phenylketonuria 2019-04-09 reviewed by expert panel curation The c.440C>T (p.Pro147Leu) variant in PAH has been reported in multiple individuals with mild PKU (BH4 deficiency excluded). (PP4_Moderate; PMID: 27121329, 26322415, 16527067, 30050108, 28982351). This variant is absent in population databases (PM2). This variant was detected in trans with known pathogenic variants p.R261Ter (PMID: 27121329); c.611A>G (PMID: 30050108); p.S70del (PMID: 28982351) (PM3_strong). Computational evidence supports a deleterious effect (PP3). In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PM3_strong, PP3.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000088918 SCV000709067 pathogenic not provided 2017-06-16 criteria provided, single submitter clinical testing
Counsyl RCV000595460 SCV000799981 likely pathogenic Phenylketonuria 2018-05-21 criteria provided, single submitter clinical testing
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088918 SCV000119516 not provided not provided no assertion provided not provided

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