ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1066-13T>G

dbSNP: rs1435691439
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV001269050 SCV001448243 uncertain significance Phenylketonuria 2020-07-25 reviewed by expert panel curation (PAH):c.1066-13T>G is an intronic variant with conflicting in silico evidence in splicing impact. This variant was documented in a patient with moderate PKU in trans with pathogenic variant p.R243Q (PMID 24705691). This variant is absent from population databases. In summary, this variant has insufficient evidence and is classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM3, and PP4.
Baylor Genetics RCV001269050 SCV004209671 likely pathogenic Phenylketonuria 2023-05-02 criteria provided, single submitter clinical testing

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