ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.168+5G>A (rs62507288)

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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 RCV000666582 SCV001146713 likely pathogenic Phenylketonuria 2019-05-26 reviewed by expert panel curation The c.168+5G>A variant has been identified in at least 4 probands with phenotypes ranging from mild HPA to classic PKU, with at least 2 probands excluding BH4 deficiency (PMIDs: 9429153, 26413448, 27121329). It has been detected in the homozygous form (PMID: 26413448) as well as in trans with pathogenic variants R297H (PMID: 9429153), I65T, and S349P (PMID: 27121329). This variant is absent from 1000G, ESP, and gnomAD databases. Computational analysis predicts an alteration of the WT donor site, most probably affecting splicing. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM3_Strong, PM2, PP4_Moderate, PP3.
Counsyl RCV000666582 SCV000790893 likely pathogenic Phenylketonuria 2018-05-15 criteria provided, single submitter clinical testing
Mendelics RCV000666582 SCV001138805 pathogenic Phenylketonuria 2019-05-28 criteria provided, single submitter clinical testing
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088847 SCV000119442 not provided not provided no assertion provided not provided

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