Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000419413 | SCV000529845 | uncertain significance | not provided | 2022-10-03 | criteria provided, single submitter | clinical testing | Has not been previously reported in peer-reviewed literature as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |
Ce |
RCV000419413 | SCV001150534 | uncertain significance | not provided | 2018-10-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001214184 | SCV001385855 | benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002374687 | SCV002692142 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2021-06-10 | criteria provided, single submitter | clinical testing | The p.P323L variant (also known as c.968C>T), located in coding exon 5 of the FLNA gene, results from a C to T substitution at nucleotide position 968. The proline at codon 323 is replaced by leucine, an amino acid with similar properties. Based on data from gnomAD, the T allele has an overall frequency of 0.003454% (7/202635) total alleles studied, with 2 hemizygotes observed. The highest observed frequency was 0.005467% (5/91458) of European (non-Finnish) alleles. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |