ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.707-2del

dbSNP: rs1592953143
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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 RCV000993636 SCV001146768 pathogenic Phenylketonuria 2019-07-15 reviewed by expert panel curation The c.707-2delA variant in PAH has been reported in one patient, who carried a second pathogenic missense variant (p.Pro281Leu; BH4 deficiency not ruled out) (PMID: 19292873). The pre-treatment serum phenylalanine was reported at > 1500 micromolar. This variant is absent from gnomAD and ESP population databases, and disrupts the canonical splice acceptor site of intron 6, resulting in a frameshift and truncated protein (PMID: 19292873). Overall, the c.707-2delA variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM3, PVS1, PP4.

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