Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000619969 | SCV000738106 | likely benign | Cardiovascular phenotype | 2022-07-01 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Athena Diagnostics | RCV000992219 | SCV001144302 | likely benign | not provided | 2019-05-23 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001226501 | SCV001398816 | likely benign | Spinocerebellar ataxia type 19/22 | 2024-01-11 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000992219 | SCV001794415 | uncertain significance | not provided | 2021-02-10 | criteria provided, single submitter | clinical testing | Reported in a patient with non-obstructive hypertrophic cardiomyopathy (HCM) who underwent whole exome sequencing and was found to harbor additional cardiogenetic variants including a missense variant in the TTN gene that was inherited from his affected father; the R431H variant was inherited from the patient's unaffected mother (Gomez-Manjon et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32818936, 28074886) |
| Neuberg Centre For Genomic Medicine, |
RCV003338690 | SCV004048447 | uncertain significance | Brugada syndrome 9 | criteria provided, single submitter | clinical testing | The missense variant c.1292G>A (p.Arg431His) in KCND3 gene has been submitted to ClinVar as a Variant of Uncertain Significance (VUS). The p.Arg431His variant is reported with the allele frequency (0.005%) in the gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The amino acid Arg at position 431 is changed to a His changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damaging by both SIFT and PolyPhen2. The residue is conserved across species. The amino acid change p.Arg431His in KCND3 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS). |