Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000904703 | SCV001762336 | benign | Phenylketonuria | 2021-07-25 | reviewed by expert panel | curation | The c.399T>C (p.Asn387=) variant in PAH meets criteria to be classified as benign. PAH-specific ACMG/AMP criteria applied: BS1: MAF = 0.00675 which is within the threshold for this expert group. BS7: HSF, Splice AI and TraP predict no significant impact on splicing signals.BS2: Observed in two healthy homozygotes in gnomAd and ExAc. |
Labcorp Genetics |
RCV000904703 | SCV001049238 | likely benign | Phenylketonuria | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000904703 | SCV001272691 | 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). 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. |
Ambry Genetics | RCV003307675 | SCV003993352 | likely benign | Inborn genetic diseases | 2023-04-07 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Natera, |
RCV000904703 | SCV001455110 | likely benign | Phenylketonuria | 2020-09-16 | no assertion criteria provided | clinical testing |