ClinVar Miner

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

dbSNP: rs202183605
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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 RCV003316802 SCV004015302 likely pathogenic Phenylketonuria 2023-03-16 reviewed by expert panel curation The c.970-1G>C variant in PAH occurs within the canonical splice acceptor site of intron 9. This is predicted to cause in-frame skipping of exon 10. It has been detected in a patient with PAH deficiency with second allele not reported (PMID: 31332730). The variant is absent in population databases. In summary, this variant meets criteria to be classified as Likely Pathogenic for PAH deficiency based on this ACMG/AMP criteria applied, as specified by the ClinGen PAH VCEP: PM2, PP4_moderate, PVS1_strong
Eurofins Ntd Llc (ga) RCV000731213 SCV000859000 pathogenic not provided 2018-01-04 criteria provided, single submitter clinical testing

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