ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.934G>T (p.Gly312Cys) (rs763115697)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Unidade de Bioquimica Genetica,Centro Hospitalar do Porto RCV000515773 SCV000611754 likely pathogenic Phenylketonuria 2017-11-06 criteria provided, single submitter clinical testing The variant was found in two sisters with a biochemical diagnosis of phenylketonuria in compound heterozygosity with IVS12+1G>A (c.1315+1G>A) in intron 12, a known pathogenic mutation. The variant is not present in ClinVar database. It was predicted as damaging by the in silico tools PROVEAN, SIFT, PolyPhen-2, and Mutation Taster.

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