Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000521464 | SCV000616977 | uncertain significance | not provided | 2017-06-08 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the LRSAM1 gene. The c.414 G>A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.414 G>A variant is observed in 12/10398 (0.1%) alleles from individuals of African background, (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Several in-silico splice prediction models predict that c.414 G>A damages the splice acceptor site for exon 8 which may lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
| Labcorp Genetics |
RCV001079039 | SCV001008868 | benign | Charcot-Marie-Tooth disease axonal type 2P | 2023-12-23 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002329230 | SCV002629014 | likely benign | Inborn genetic diseases | 2019-07-11 | 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. |