Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000713610 | SCV000344710 | uncertain significance | not provided | 2016-08-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000713610 | SCV000576790 | uncertain significance | not provided | 2017-04-19 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the SYNE1 gene. The V5774M variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The V5774M variant is observed in 51/15508 (0.3%) alleles from individuals of South Asian background, (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The V5774M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Athena Diagnostics Inc | RCV000713610 | SCV000844235 | uncertain significance | not provided | 2018-05-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003417919 | SCV004115757 | uncertain significance | SYNE1-related condition | 2023-02-15 | criteria provided, single submitter | clinical testing | The SYNE1 c.17320G>A variant is predicted to result in the amino acid substitution p.Val5774Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.28% of alleles in individuals of South Asian descent in gnomAD, which may be too common to be a primary cause of disease (http://gnomad.broadinstitute.org/variant/6-152623012-C-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |