ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1002C>T (p.Cys334=)

gnomAD frequency: 0.00004  dbSNP: rs140243918
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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 RCV001093518 SCV001250551 uncertain significance Phenylketonuria 2020-01-26 reviewed by expert panel curation The c.1002C>T (p.Cys334=) variant in PAH has not been reported in the literature to our knowledge. This variant has an extremely low frequency in ExAC, gnomAD, and ESP (MAF=0.00004). Multiple lines of computational evidence are conflicting regarding splicing impact (Potential alteration of splicing in HSF, TraP=0.058). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2.
Eurofins Ntd Llc (ga) RCV000317688 SCV000340191 uncertain significance not provided 2016-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001093518 SCV001668436 likely benign Phenylketonuria 2024-01-21 criteria provided, single submitter clinical testing

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