ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.442-14C>T

gnomAD frequency: 0.00002  dbSNP: rs775806999
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV001269072 SCV001448296 uncertain significance Phenylketonuria 2020-10-15 reviewed by expert panel curation The c.442-14C>T PAH variant has been reported in 1 Han Chinese patient with PAH deficiency (PMID: 28982351) detected with the pathogenic PAH variant p.Arg111Ter. A defect in BH4 metabolism was excluded by urinary pterin analysis only. This variant has a MAF of 0.0003510 in the gnomAD East Asian population. It is intronic in a highly conserved nucleotide and is predicted to be benign by splicing prediction algorithms. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM3, PP4.
Fulgent Genetics, Fulgent Genetics RCV001269072 SCV002780878 uncertain significance Phenylketonuria 2021-11-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001269072 SCV003505749 likely benign Phenylketonuria 2024-06-03 criteria provided, single submitter clinical testing

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