ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1065+7C>A

dbSNP: rs62508639
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV001269052 SCV001448245 uncertain significance Phenylketonuria 2020-07-25 reviewed by expert panel curation (PAH):c.1065+7C>A is an intronic variant that is predicted to be have no effect on splicing by multiple lines of computational evidence. This variant was identified in a patient with mild HPA. Patient genotype was not specified homozygous or compound heterozygous (PMID 10947211). This variant is absent in population databases. In summary, this variant has insufficient evidence and is classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, BP4, and PP4.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088737 SCV000119319 not provided not provided no assertion provided not provided

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