Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000797026 | SCV000936565 | uncertain significance | Dilated cardiomyopathy 1II | 2023-12-06 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 92 of the CRYAB protein (p.Lys92Arg). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with CRYAB-related conditions. ClinVar contains an entry for this variant (Variation ID: 643345). 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. 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. |
Ai |
RCV002223943 | SCV002502063 | uncertain significance | not provided | 2022-02-21 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002477816 | SCV002779747 | uncertain significance | Myofibrillar myopathy 2; Cataract 16 multiple types; Fatal infantile hypertonic myofibrillar myopathy; Dilated cardiomyopathy 1II | 2021-11-04 | criteria provided, single submitter | clinical testing |