Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000709703 | SCV001250539 | benign | Phenylketonuria | 2019-11-08 | reviewed by expert panel | curation | The c.60+62C>T intronic variant in PAH has a MAF of 0.3441 in gnomAD with 2,014 homozygotes.In summary, this variant meets criteria to be classified as benign for PAH. PAH-specific ACMG/AMP criteria applied: BA1, BS2, BP7. |
Pars Genome Lab | RCV000709703 | SCV001750014 | benign | Phenylketonuria | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001598678 | SCV001827402 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
H3Africa Consortium | RCV001703234 | SCV002014653 | benign | not specified | 2020-10-28 | criteria provided, single submitter | research | While the frequency of the alternate allele in gnoMAD v2.0.2 is 0.521, its frequency in African populations is >5%. This suggests that previous classifications of this variant as pathogenic are in error. |
Molecular Genetics, |
RCV000709703 | SCV004812732 | benign | Phenylketonuria | 2023-05-04 | criteria provided, single submitter | clinical testing | African/African American population allele frequency is 48.34% (rs1522296, 4299/8672 alleles, 1055 homozygotes in gnomAD v2.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.2.1, this variant is classified as BENIGN. Following criteria are met: BA1 |
Breakthrough Genomics, |
RCV001598678 | SCV005235510 | benign | not provided | criteria provided, single submitter | not provided | ||
Clinical Laboratory, |
RCV000709703 | SCV000839874 | likely pathogenic | Phenylketonuria | 2018-06-26 | no assertion criteria provided | case-control | |
Reproductive Health Research and Development, |
RCV000709703 | SCV001142436 | benign | Phenylketonuria | 2020-01-06 | no assertion criteria provided | curation | NG_008690.2(NM_000277.2):c.60+62C>T in the gene PAH has an allele frequency of 0.496 in African subpopulation in the gnomAD database. A total of 2014 homozygous occurrences are observed in the gnomAD database. This evidence suggests the variant to be classified as benign. ACMG/AMP criteria applied: BA1, BS2. |
Genome Diagnostics Laboratory, |
RCV001703234 | SCV001930245 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001703234 | SCV001954627 | benign | not specified | no assertion criteria provided | clinical testing | ||
Prevention |
RCV003980322 | SCV004798874 | benign | PAH-related disorder | 2021-02-18 | no assertion criteria provided | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |