Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000621056 | SCV000739977 | uncertain significance | Cardiovascular phenotype | 2021-02-03 | criteria provided, single submitter | clinical testing | The p.Q1464* variant (also known as c.4390C>T), located in coding exon 30 of the MYH7 gene, results from a C to T substitution at nucleotide position 4390. This changes the amino acid from a glutamine to a stop codon within coding exon 30. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of MYH7 has not been clearly established as a mechanism of disease. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Color Diagnostics, |
RCV001179339 | SCV001343986 | uncertain significance | Cardiomyopathy | 2020-02-19 | criteria provided, single submitter | clinical testing | This variant changes 1 nucleotide in exon 32 of the MYH7 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 2/251382 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Clinical significance of loss-of-function MYH7 truncation variants in autosomal dominant cardiovascular disorders is not clearly established. The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
| Gene |
RCV001756014 | SCV002007163 | uncertain significance | not provided | 2019-09-18 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Nonsense variant predicted to result in protein truncation [or nonsense mediated decay] in a gene for which loss-of-function is not a known mechanism of disease; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID# 520285; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 22213221) |
| All of Us Research Program, |
RCV004002740 | SCV004817140 | uncertain significance | Primary dilated cardiomyopathy | 2023-12-15 | criteria provided, single submitter | clinical testing | Gene for which null variants are not an established cause for the relevant disease |