ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1162G>C (p.Val388Leu) (rs62516101)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000088775 SCV000582978 likely pathogenic not provided 2016-03-17 criteria provided, single submitter clinical testing The V388L variant has been reported in a Korean patient with PKU who also harbored a second missense variant in the PAH gene (Park et al. 1998). The V388L variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution occurs at a position that is conserved across species, and a missense variant at the same position (V388M) has been reported in the Human Gene Mutation Database in association with PKU (Stenson et al., 2014), supporting the functional importance of this region of the protein. In summary, the V388L variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088775 SCV000119360 not provided not provided no assertion provided not provided

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