Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Endocrinology Unit / Unidade de Endocrinologia Genetica - |
RCV001779145 | SCV002016192 | likely pathogenic | Proportionate short stature | 2021-11-17 | criteria provided, single submitter | clinical testing | De novo heterozygous variant, in a conserved region in a gene with few variants, absent in public databases: PM1, PM2, PM5, PM6, PP2, PP3 |
Mendelics | RCV002246254 | SCV002518946 | pathogenic | LEOPARD syndrome 1 | 2022-05-04 | criteria provided, single submitter | clinical testing | |
3billion | RCV003152757 | SCV003841483 | likely pathogenic | Noonan syndrome 1 | 2023-02-23 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.70; 3Cnet: 0.88). Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000981584). A different missense change at the same codon (p.Ile221Val) has been reported to be associated with PTPN11-related disorder (ClinVar ID: VCV000181498 / PMID: 24451042). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline. |
Service de Génétique Moléculaire, |
RCV001261107 | SCV001438514 | uncertain significance | Noonan syndrome | no assertion criteria provided | clinical testing |