ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.970-1G>T

dbSNP: rs202183605
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV001200007 SCV001370863 likely pathogenic Phenylketonuria 2020-05-18 reviewed by expert panel curation The c.970-1G>T variant in PAH is a canonical splice-site variant predicted to lead to skipping of exon 10 (PVS1_Strong). It is absent from ethnically diverse control databases, including gnomAD/ExAC, 1000 Genomes, and ESP (PM2). It has been reported in two probands with classic PKU (as defined by abnormal blood Phe levels) (PMID: 27469133); BH4 deficiency does not appear to have been excluded, and there does not appear to be further genotype-level information (PP4). Classification: Likely Pathogenic Supporting Criteria: PVS1_Strong; PM2; PP4

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