ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1065+3A>G (rs62508689)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV000758111 SCV000886585 likely pathogenic Phenylketonuria 2018-12-10 reviewed by expert panel curation The c.1065+3A>G variant in PAH was detected in 2 siblings with an increased serum Phenylalanine level of 365 uM. BH4 deficiency was not assessed/reported. (PMID: 8088845) They were compound heterozygous for Y414C. The c.1065+3A>G variant is absent from ExAC, gnomAD, 1000G, and ESP. A deleterious effect is predicted for this variant in HSF and MaxEnt (Alteration of the WT donor site; activation of an intronic cryptic donor site). In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM3, PP1, PP3, PP4.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000088736 SCV000331037 uncertain significance not provided 2015-09-29 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000088736 SCV000889560 uncertain significance not provided 2018-01-14 criteria provided, single submitter clinical testing
OMIM RCV000000665 SCV000020815 pathogenic Hyperphenylalaninemia, non-pku 1994-05-15 no assertion criteria provided literature only
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088736 SCV000119318 not provided not provided no assertion provided not provided

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