Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000081828 | SCV000329259 | pathogenic | not provided | 2023-03-02 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a damaging effect; the I1028V variant causes a complete loss of function of CHD7 (Balasubramanian et al., 2014); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 20884005, 16155193, 18073582, 25472840, 15300250, 22539353, 26563674, 22461308, 28475860, 21158681, 32914532, 34828433, 33189935) |
Eurofins Ntd Llc |
RCV000081828 | SCV000331477 | pathogenic | not provided | 2013-08-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000002100 | SCV000755739 | pathogenic | CHARGE syndrome | 2022-12-06 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 2022). This missense change has been observed in individual(s) with CHARGE syndrome (PMID: 15300250, 16155193, 18073582, 20884005, 21158681, 22539353). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1028 of the CHD7 protein (p.Ile1028Val). Experimental studies have shown that this missense change affects CHD7 function (PMID: 25472840). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. |
Fulgent Genetics, |
RCV000763598 | SCV000894443 | pathogenic | CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV002287316 | SCV002577988 | pathogenic | Hypogonadotropic hypogonadism | 2022-05-31 | criteria provided, single submitter | clinical testing | ACMG categories: PS1,PS4,PM2,PM5 |
Laboratory of Medical Genetics, |
RCV000002100 | SCV004171100 | likely pathogenic | CHARGE syndrome | criteria provided, single submitter | clinical testing | ||
OMIM | RCV000002100 | SCV000022258 | pathogenic | CHARGE syndrome | 2004-09-01 | no assertion criteria provided | literature only |