ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.30C>G (p.Gly10=) (rs1801145)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000779088 SCV000915573 uncertain significance Phenylketonuria 2017-08-23 criteria provided, single submitter clinical testing The PAH gene is the only gene in which variants are known to cause phenylalanine hydroxylase deficiency. The PAH c.30C>G (p.Gly10=) synonymous variant has been reported in one study and found in a compound heterozygous state with an indel variant in one family with two affected siblings. The authors suggest that the c.30C>G variant may cause aberrant mRNA splicing. They observed an increase in binding of c.30C>G PAH RNA to heterogeneous nuclear ribonucleoprotein (hnRNP) proteins which inhibit splicing (Dobrowlski et al. 2010). The p.Gly10 variant was absent from 200 control individuals and is reported at a frequency of 0.00330 in the Other population of the Exome Aggregation Consortium. Based on the evidence, the p.Gly10 variant is classified as a variant of unknown significance but suspicious for pathogenicity for phenylalanine hydroxylase deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088895 SCV000119493 not provided not provided no assertion provided not provided

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