Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001067420 | SCV001232481 | uncertain significance | Hypertrophic cardiomyopathy | 2023-09-21 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 30 of the MYH7 gene. It does not directly change the encoded amino acid sequence of the MYH7 protein. This variant is present in population databases (rs755468667, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with MYH7-related conditions. ClinVar contains an entry for this variant (Variation ID: 861005). 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 | RCV002327351 | SCV002630498 | uncertain significance | Cardiovascular phenotype | 2022-01-18 | criteria provided, single submitter | clinical testing | The c.4170-5G>A intronic variant results from a G to A substitution 5 nucleotides upstream from coding exon 29 in the MYH7 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Institute for Clinical Genetics, |
RCV003321798 | SCV004026385 | uncertain significance | not provided | 2023-05-17 | criteria provided, single submitter | clinical testing | PM2_SUP |