Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000757407 | SCV000618115 | uncertain significance | not provided | 2021-05-20 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar as a likely benign variant (ClinVar Variant ID# 449745; Landrum et al., 2016) |
ARUP Laboratories, |
RCV000757407 | SCV000885615 | likely benign | not provided | 2017-12-13 | criteria provided, single submitter | clinical testing | The p.Asn236Ser variant (rs145571020) has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency of 0.3 percent in the East Asian population (identified on 55 out of 18,868 chromosomes). The asparagine at position 236 is highly conserved up to zebrafish considering 13 species (Alamut v2.10) and computational analyses of the effects of the p.Asn236Ser variant on protein structure and function provide conflicting results (SIFT: tolerated, MutationTaster: disease causing, PolyPhen-2:benign). Given the overabundance of the p.Asn236Ser variant in the general population, it is considered likely benign. |
Invitae | RCV001084716 | SCV001004058 | likely benign | Primary familial hypertrophic cardiomyopathy | 2024-01-22 | criteria provided, single submitter | clinical testing |