Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000153245 | SCV000202719 | uncertain significance | not provided | 2014-01-21 | criteria provided, single submitter | clinical testing | |
Claritas Genomics | RCV000012538 | SCV000222855 | pathogenic | Oto-palato-digital syndrome, type I | 2008-02-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000560177 | SCV000639811 | pathogenic | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2022-06-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt FLNA protein function. ClinVar contains an entry for this variant (Variation ID: 11772). This missense change has been observed in individuals with clinical features of FLNA-related conditions (PMID: 12612583, 15194946, 17264970; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 196 of the FLNA protein (p.Arg196Trp). |
Gene |
RCV000153245 | SCV002820867 | likely pathogenic | not provided | 2022-07-15 | 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: 33767182, 12612583, 17264970) |
OMIM | RCV000012538 | SCV000032772 | pathogenic | Oto-palato-digital syndrome, type I | 2007-01-01 | no assertion criteria provided | literature only | |
OMIM | RCV000012539 | SCV000032773 | pathogenic | Oto-palato-digital syndrome, type II | 2007-01-01 | no assertion criteria provided | literature only |