Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724800 | SCV000230580 | uncertain significance | not provided | 2015-05-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000198176 | SCV000250400 | likely benign | not specified | 2017-11-28 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
ARUP Laboratories, |
RCV000724800 | SCV001473299 | uncertain significance | not provided | 2020-03-03 | criteria provided, single submitter | clinical testing | The FLNA c.6989C>G; p.Ser2330Cys variant (rs781878646), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 197460). This variant is only observed on four alleles in the Genome Aggregation Database, indicating it is not a common polymorphism. The serine at codon 2330 is highly conserved, and computational analyses (SIFT: damaging, PolyPhen-2: benign) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Ser2330Cys variant is uncertain at this time. |
Invitae | RCV001338631 | SCV001532317 | benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2023-11-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002362916 | SCV002664434 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2019-09-12 | criteria provided, single submitter | clinical testing | The p.S2330C variant (also known as c.6989C>G), located in coding exon 41 of the FLNA gene, results from a C to G substitution at nucleotide position 6989. The serine at codon 2330 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |