Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Diagnostic Laboratory, |
RCV001029748 | SCV001437909 | likely pathogenic | Intellectual disability | 2020-09-10 | criteria provided, single submitter | clinical testing | |
3billion | RCV001375919 | SCV002318571 | pathogenic | Blepharophimosis-impaired intellectual development syndrome | 2022-03-22 | criteria provided, single submitter | clinical testing | Same or different nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000829814, PMID:28628100). The variant has been previously reported as de novo in a similarly affected individual (PMID: 25533962). A different missense change at the same codon has been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000829811, PMID:28628100). The variant is located in a mutational hot spot and/or well-established functional domain in which established pathogenic variants have been reported. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.752>=0.6). A missense variant is a common mechanism . It is not observed in the gnomAD v2.1.1 dataset. TTherefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
Gene |
RCV002462259 | SCV002757316 | pathogenic | not provided | 2022-05-20 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28628100, 28191890, 25533962, 32694869, 28135719) |
Fondazione Telethon, |
RCV001029748 | SCV001169154 | likely pathogenic | Intellectual disability | no assertion criteria provided | clinical testing | ||
OMIM | RCV001375919 | SCV001572899 | pathogenic | Blepharophimosis-impaired intellectual development syndrome | 2021-04-30 | no assertion criteria provided | literature only |