Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000301504 | SCV000482239 | uncertain significance | Dilated cardiomyopathy 3B | 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
| Labcorp Genetics |
RCV000557650 | SCV000625929 | uncertain significance | Duchenne muscular dystrophy | 2024-12-10 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 41 of the DMD gene. It does not directly change the encoded amino acid sequence of the DMD protein. This variant is present in population databases (rs780118536, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with DMD-related conditions. ClinVar contains an entry for this variant (Variation ID: 368240). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. |
| Ambry Genetics | RCV003298416 | SCV004001543 | uncertain significance | Cardiovascular phenotype | 2023-05-05 | criteria provided, single submitter | clinical testing | The c.5923-4C>G intronic variant results from a C to G substitution 4 nucleotides upstream from coding exon 42 in the DMD gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice acceptor site. Based on data from gnomAD, the G allele has an overall frequency of <0.01% (1/179986) total alleles studied, with 0 hemizygote(s) observed. The highest observed frequency was <0.01% (1/27159) of Latino alleles. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Natera, |
RCV001833483 | SCV002093444 | uncertain significance | Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency | 2018-06-29 | no assertion criteria provided | clinical testing |