ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.442-18G>A

gnomAD frequency: 0.00014  dbSNP: rs149538764
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV000665023 SCV001146728 uncertain significance Phenylketonuria 2019-09-27 reviewed by expert panel curation The c.442-18G>A variant in PAH has not been reported in the literature to our knowledge. This variant has a MAF of 0.00067 in the gnomAD Latino population. This is too high for PM2, but too low for BS1 per PAH EP guidelines. No splicing impact is predicted in HSF or MaxEnt (BP7). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: BP7.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506444 SCV000601713 uncertain significance not specified 2017-04-19 criteria provided, single submitter clinical testing
Counsyl RCV000665023 SCV000789076 likely benign Phenylketonuria 2016-12-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000665023 SCV002443540 likely benign Phenylketonuria 2024-12-17 criteria provided, single submitter clinical testing

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