Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000520883 | SCV000617014 | uncertain significance | not provided | 2017-10-25 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the FLNA gene. The T1705M variant has not been published as pathogenic or been reported as benign to our knowledge. The T1705M variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, the T1705M variant was observed in the hemizygous state in three individuals in the Exome Aggregation Consortium (ExAc). |
Invitae | RCV001084701 | SCV001011476 | likely benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2023-07-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002527565 | SCV003748957 | uncertain significance | Inborn genetic diseases | 2022-10-25 | criteria provided, single submitter | clinical testing | The c.5114C>T (p.T1705M) alteration is located in exon 30 (coding exon 29) of the FLNA gene. This alteration results from a C to T substitution at nucleotide position 5114, causing the threonine (T) at amino acid position 1705 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV000520883 | SCV003832716 | uncertain significance | not provided | 2021-08-11 | criteria provided, single submitter | clinical testing |