Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV002509212 | SCV002818506 | pathogenic | Phenylketonuria | 2022-07-30 | reviewed by expert panel | curation | The frameshift variant c.1099dup (p.Leu367Profs*27) occurs in exon 11 of 13 and is predicted to result in NMD. The variant is found at an extremely low allele frequency of 0.000003980 overall in gnomAD with a MAF of 0.000008804 (1/113590) in the European population. One classical PKU patient has been reported (PMID: 16256386) with this variant in trans with Arg243Gln (ClinVar 591, Pathogenic by multiple submitters). In summary, this variant meets criteria to be classified as Pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM2, PM3_supporting, PP4. |
Baylor Genetics | RCV002509212 | SCV004209658 | pathogenic | Phenylketonuria | 2023-06-06 | criteria provided, single submitter | clinical testing | |
De |
RCV000088755 | SCV000119339 | not provided | not provided | flagged submission | not provided | ||
De |
RCV000088755 | SCV000119340 | not provided | not provided | no assertion provided | not provided |