Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000124087 | SCV000167496 | benign | not specified | 2013-03-28 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
| Labcorp Genetics |
RCV001088840 | SCV000627551 | benign | Long QT syndrome | 2025-01-29 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000588823 | SCV000697548 | benign | not provided | 2016-12-05 | criteria provided, single submitter | clinical testing | Variant summary: The CACNA1C c.4659C>T (p.Asp1553Asp) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 27/120922 control chromosomes, exclusively observed in the East Asian subpopulation at a frequency of 0.0031228 (27/8646). This frequency is about 312 times the estimated maximal expected allele frequency of a pathogenic CACNA1C variant (0.00001), suggesting this is likely a benign polymorphism found primarily in the populations of East Asian origin. In addition, one clinical diagnostic laboratory/reputable database has classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign. |
| Eurofins Ntd Llc |
RCV000588823 | SCV000701656 | uncertain significance | not provided | 2016-09-30 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000617383 | SCV000736473 | likely benign | Cardiovascular phenotype | 2017-03-03 | 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. |
| ARUP Laboratories, |
RCV000588823 | SCV005876487 | likely benign | not provided | 2024-02-16 | criteria provided, single submitter | clinical testing |