Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000381159 | SCV000345588 | pathogenic | not provided | 2016-08-24 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000465696 | SCV000549199 | pathogenic | Long QT syndrome | 2023-06-11 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 290919). This variant has not been reported in the literature in individuals affected with CAV3-related conditions. This variant is present in population databases (rs778914298, gnomAD 0.008%). This sequence change creates a premature translational stop signal (p.Glu4Hisfs*17) in the CAV3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CAV3 are known to be pathogenic (PMID: 18487559). |
Ai |
RCV000381159 | SCV002501162 | uncertain significance | not provided | 2022-01-20 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV002248512 | SCV002518643 | pathogenic | Elevated circulating creatine kinase concentration | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002436126 | SCV002752216 | uncertain significance | Cardiovascular phenotype | 2021-12-16 | criteria provided, single submitter | clinical testing | The c.10_17delGAAGAGCA variant, located in coding exon 1 of the CAV3 gene, results from a deletion of 8 nucleotides at nucleotide positions 10 to 17, causing a translational frameshift with a predicted alternate stop codon (p.E4Hfs*17). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Although truncating variants have been implicated in autosomal recessive caveolinopathy, loss of function has not been established as a mechanism of disease for autosomal dominant caveolinopathy (Müller JS et al. Neuromuscul Disord, 2006 Jul;16:432-6; Ueyama H et al. Neuromuscul Disord, 2007 Jul;17:558-61; Traverso M et al. J Neurol Neurosurg Psychiatry, 2008 Jun;79:735-7). Based on the supporting evidence, this variant is expected to be pathogenic for autosomal recessive caveolinopathy when present along with a second pathogenic variant on the other allele; however, the clinical significance of this variant in the heterozygous state is unclear. |