Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000419668 | SCV000524392 | uncertain significance | not provided | 2016-02-25 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the CACNA1A gene. The F1555L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project and was not observed with any significant frequency in the 1000 Genomes Project. The F1555L variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Invitae | RCV001233140 | SCV001405722 | likely benign | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003362783 | SCV004073395 | uncertain significance | Inborn genetic diseases | 2023-07-30 | criteria provided, single submitter | clinical testing | The c.4665C>G (p.F1555L) alteration is located in exon 29 (coding exon 29) of the CACNA1A gene. This alteration results from a C to G substitution at nucleotide position 4665, causing the phenylalanine (F) at amino acid position 1555 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |