Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000439958 | SCV000536448 | uncertain significance | not provided | 2023-05-24 | criteria provided, single submitter | clinical testing | Has not been reported in association with cardiomyopathy to our knowledge; Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 32430163, 31127727) |
Invitae | RCV000813845 | SCV000954225 | uncertain significance | Dilated cardiomyopathy 1II | 2023-08-04 | criteria provided, single submitter | clinical testing | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 393088). This missense change has been observed in individual(s) with CRYAB-related conditions (PMID: 31127727, 32430163). This variant is present in population databases (rs534473091, gnomAD 0.004%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 123 of the CRYAB protein (p.Arg123Trp). |
Fulgent Genetics, |
RCV002481349 | SCV002785977 | uncertain significance | Myofibrillar myopathy 2; Cataract 16 multiple types; Fatal infantile hypertonic myofibrillar myopathy; Dilated cardiomyopathy 1II | 2021-08-25 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000439958 | SCV003828661 | uncertain significance | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing |