Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000872521 | SCV002032186 | uncertain significance | Phenylketonuria | 2021-09-26 | reviewed by expert panel | curation | The c.1161C>T (p.Tyr387=) variant in PAH has not been reported in the literature to our knowledge. It is a silent variant with no splice impact predicted. It is present at low frequencies in population databases (MAF 0.00024 in gnomAd and ExAc, 0 homozygotes) which is above our threshold for PM2 (<0.0002) but below our threshold for BS1 (>0.002). Therefore, it meets criteria to be classified as uncertain significance. PAH-specific ACMG/AMP criteria applied: BP7. |
Labcorp Genetics |
RCV000872521 | SCV001014345 | likely benign | Phenylketonuria | 2025-01-13 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000872521 | SCV001268944 | uncertain significance | Phenylketonuria | 2017-04-27 | 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant 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, |
RCV001194093 | SCV001363370 | likely benign | not specified | 2019-09-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000872521 | SCV001810173 | likely benign | Phenylketonuria | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001800901 | SCV002046650 | likely benign | not provided | 2021-02-16 | criteria provided, single submitter | clinical testing |