ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.442-5C>G (rs62514909)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000088925 SCV000700534 pathogenic not provided 2016-11-23 criteria provided, single submitter clinical testing
Invitae RCV000801016 SCV000940765 pathogenic Phenylketonuria 2019-11-15 criteria provided, single submitter clinical testing This sequence change falls in intron 4 of the PAH gene. It does not directly change the encoded amino acid sequence of the PAH protein. This variant is present in population databases (rs62514909, ExAC 0.001%). This variant has been observed on the opposite chromosome (in trans) from another pathogenic PAH variant in an individual affected with hyperphenylalaninemia (PMID: 23792259, Invitae). In addition, this variant has been reported in combination with another PAH variant in an individual with biochemical findings that are highly specific for mild PKU (PMID: 26666653). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 102677). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088925 SCV000119524 not provided not provided no assertion provided not provided
Counsyl RCV000801016 SCV001132266 likely pathogenic Phenylketonuria 2018-03-20 no assertion criteria provided clinical testing

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