Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000200669 | SCV000250421 | uncertain significance | not provided | 2015-04-16 | criteria provided, single submitter | clinical testing | The V804I variant in the FLNA gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The V804I variant was not observed at any significant frequency in approximately 5000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The V804I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Valine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret V804I as a variant of unknown significance. This variant was found in FLNA |
Invitae | RCV002228871 | SCV000543688 | benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002492894 | SCV002790490 | uncertain significance | Cardiac valvular dysplasia, X-linked; FG syndrome 2; Heterotopia, periventricular, X-linked dominant; Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Terminal osseous dysplasia-pigmentary defects syndrome; Frontometaphyseal dysplasia 1 | 2021-09-24 | criteria provided, single submitter | clinical testing |