ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.353-2059_353-1160del

dbSNP: rs2136680756
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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 RCV002260491 SCV002540132 uncertain significance Phenylketonuria 2020-12-25 reviewed by expert panel curation The p.Intron3del899 (g.103272488_103273387del) variant is an 899bp deletion in Intron 3 of PAH. It has been previously reported as a variant of “uncertain clinical significance” in patient with PKU (plasma Phe levels not provided in paper; BH4 deficiency excluded by sequencing of the genes in the BH4 cofactor metabolism pathway) (PP4_Moderate), who also harbored a deletion in exon 5 (g.103272488_103273386del, leading to a frameshift at His170) and the c.994G>A (p.G322R) missense variant (unclassified/VUS) (PMID: 23942198). It is absent from ethnically diverse control databases, including gnomAD (structural variant version, gnomAD SVs v2.1) (PM2). Classification: VUS Supporting criteria: PM2; PP4_Moderate

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