Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000462161 | SCV000546210 | uncertain significance | Hypertrophic cardiomyopathy | 2023-12-05 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1520 of the MYH7 protein (p.Gly1520Arg). This variant is present in population databases (rs763683589, gnomAD 0.0009%). This missense change has been observed in individual(s) with Brugada syndrome (PMID: 26220970). ClinVar contains an entry for this variant (Variation ID: 407178). An algorithm developed specifically for the MYH7 gene suggests that this missense change is likely to be deleterious (PMID: 21310275). 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, |
RCV003488608 | SCV004236705 | uncertain significance | not provided | 2023-06-29 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV003532127 | SCV004359532 | uncertain significance | Cardiomyopathy | 2021-07-27 | criteria provided, single submitter | clinical testing | This missense variant replaces glycine with arginine at codon 1520 of the MYH7 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 2/251478 chromosomes 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. |