Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001109638 | SCV001266997 | likely benign | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 2017-04-28 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Invitae | RCV001109638 | SCV001379493 | uncertain significance | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 2023-11-25 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1222 of the SYNE2 protein (p.Arg1222Trp). This variant is present in population databases (rs773994020, gnomAD 0.02%). This missense change has been observed in individual(s) with congenital myopathy (PMID: 25214167). ClinVar contains an entry for this variant (Variation ID: 880975). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Revvity Omics, |
RCV001109638 | SCV003818247 | uncertain significance | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 2019-10-08 | criteria provided, single submitter | clinical testing |