Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000624658 | SCV000742473 | pathogenic | Inborn genetic diseases | 2017-04-26 | criteria provided, single submitter | clinical testing | |
Center for Human Genetics, |
RCV000019536 | SCV000782339 | pathogenic | Branchiooculofacial syndrome | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002472933 | SCV002770392 | pathogenic | not provided | 2022-12-22 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a damaging effect (Li et al., 2013); 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: 25590586, 21204207, 19764023, 7747785, 25325184, 31829210, 23578821, 20358615) |
Invitae | RCV002472933 | SCV003439398 | likely pathogenic | not provided | 2022-10-23 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 18466). This missense change has been observed in individual(s) with branchio-oculo-facial syndrome (PMID: 25325184, 31829210; Invitae). 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 arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 237 of the TFAP2A protein (p.Arg237Gln). |
OMIM | RCV000019536 | SCV000039833 | pathogenic | Branchiooculofacial syndrome | 2010-04-01 | no assertion criteria provided | literature only |