Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001057188 | SCV000387626 | benign | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Labcorp Genetics |
RCV001057188 | SCV001221668 | likely benign | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 2023-07-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004021598 | SCV003721168 | uncertain significance | not specified | 2022-11-21 | criteria provided, single submitter | clinical testing | The c.20423C>T (p.S6808L) alteration is located in exon 114 (coding exon 113) of the SYNE2 gene. This alteration results from a C to T substitution at nucleotide position 20423, causing the serine (S) at amino acid position 6808 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003417990 | SCV004113366 | uncertain significance | SYNE2-related disorder | 2022-09-08 | criteria provided, single submitter | clinical testing | The SYNE2 c.20423C>T variant is predicted to result in the amino acid substitution p.Ser6808Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.091% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/14-64691219-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. |