ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.970-6T>G

dbSNP: rs62507274
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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 RCV002259598 SCV002540162 uncertain significance Phenylketonuria 2020-07-09 reviewed by expert panel curation The c.970-6T>G variant in PAH is absent from population databases (PM2). It has been observed in at least one PKU patient (PMID: 7766957) compound heterozygous with pathogenic variant R413P (ClinVar592; PM3). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM3.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000089186 SCV000119801 not provided not provided no assertion provided not provided

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