ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.510-6T>G

dbSNP: rs62507281
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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 RCV001269312 SCV001448662 uncertain significance Phenylketonuria 2020-09-12 reviewed by expert panel curation The c.510-6T>G variant in PAH is absent from population databases (PM2). It has been observed in at least one classic PKU patient (PMID: 23764561; PP4). The patient is compound heterozygous with pathogenic variant R408W (ClinVar 577; PM3_supporting). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM3_supporting, PP4.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088962 SCV000119565 not provided not provided no assertion provided not provided

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