Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001380289 | SCV001578291 | pathogenic | Capillary malformation-arteriovenous malformation syndrome | 2020-04-19 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in RASA1 are known to be pathogenic (PMID: 24038909). This variant has not been reported in the literature in individuals with RASA1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val643Cysfs*3) in the RASA1 gene. It is expected to result in an absent or disrupted protein product. |
Ambry Genetics | RCV002413910 | SCV002721535 | pathogenic | Cardiovascular phenotype | 2018-08-17 | criteria provided, single submitter | clinical testing | The c.1926dupT pathogenic mutation, located in coding exon 14 of the RASA1 gene, results from a duplication of T at nucleotide position 1926, causing a translational frameshift with a predicted alternate stop codon (p.V643Cfs*3). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |