Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035911 | SCV000059562 | uncertain significance | not specified | 2014-01-19 | criteria provided, single submitter | clinical testing | proposed classification - variant undergoing re-assessment, contact laboratory |
Ambry Genetics | RCV000618766 | SCV000737384 | uncertain significance | Cardiovascular phenotype | 2017-11-15 | criteria provided, single submitter | clinical testing | The c.4411C>T (p.Q1471*) alteration, located in exon 32 (coding exon 30) of the MYH7 gene, consists of a C to T substitution at nucleotide position 4411. This changes the amino acid from a glutamine (Q) to a stop codon at amino acid position 1471. Premature stop codons are typically deleterious in nature (Richards, 2015). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Gene |
RCV001753444 | SCV002005596 | uncertain significance | not provided | 2019-06-19 | criteria provided, single submitter | clinical testing | Identified in a single individual with DCM, however, additional clinical and segregation information was not provided (Pugh et al., 2014; Walsh et al., 2017); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 24503780, 27532257) |
Invitae | RCV003105778 | SCV003783830 | uncertain significance | Hypertrophic cardiomyopathy | 2023-09-18 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln1471*) in the MYH7 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MYH7 cause disease. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with dilated cardiomyopathy (PMID: 24503780). ClinVar contains an entry for this variant (Variation ID: 43017). 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. |
Color Diagnostics, |
RCV003531919 | SCV004359535 | uncertain significance | Cardiomyopathy | 2023-03-29 | 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. This variant has been reported in an individual affected with dilated cardiomyopathy (PMID: 24503780, 27532257). Clinical relevance of loss-of-function MYH7 truncation variants in autosomal dominant cardiovascular disorders is not clearly established. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). 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. |
All of Us Research Program, |
RCV003531919 | SCV004830206 | uncertain significance | Cardiomyopathy | 2023-06-08 | 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. This variant has been reported in an individual affected with dilated cardiomyopathy (PMID: 24503780, 27532257). Clinical relevance of loss-of-function MYH7 truncation variants in autosomal dominant cardiovascular disorders is not clearly established. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). 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. |