ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.706+17G>T

gnomAD frequency: 0.00087  dbSNP: rs62508592
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV000758115 SCV000886591 likely benign Phenylketonuria 2018-12-10 reviewed by expert panel curation The c.706+17G>T variant in PAH has been reported in the mother of a patient with PKU (not found in the patient). PMID: 11139255. The MAF for this variant is 0.00269, greater than expected. Multiple splicing predictors suggest no impact (HSF: No significant splicing motif alteration detected. This mutation has probably no impact on splicing. MaxEnt: +15.3 % variation). In summary, this variant meets criteria to be classified as likely benign: BS1, BP4.
Invitae RCV000758115 SCV002408077 benign Phenylketonuria 2024-01-29 criteria provided, single submitter clinical testing
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000089043 SCV000119648 not provided not provided no assertion provided not provided

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