Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000669869 | SCV000794662 | uncertain significance | Phenylketonuria | 2017-10-10 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000669869 | SCV001271160 | uncertain significance | Phenylketonuria | 2017-04-28 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001526923 | SCV001737683 | uncertain significance | not specified | 2021-06-14 | criteria provided, single submitter | clinical testing | Variant summary: PAH c.1089G>C (p.Lys363Asn) results in a non-conservative amino acid change located in the Aromatic amino acid hydroxylase, C-terminal domain (IPR019774) of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 251210 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1089G>C in individuals affected with Phenylalanine Hydroxylase Deficiency (Phenylketonuria) and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Both laboratories cited the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance. |
Genome- |
RCV000669869 | SCV001806088 | uncertain significance | Phenylketonuria | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000669869 | SCV002088629 | uncertain significance | Phenylketonuria | 2020-07-20 | no assertion criteria provided | clinical testing |