Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000814438 | SCV000954848 | uncertain significance | Dilated cardiomyopathy 1II | 2022-07-19 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 40 of the CRYAB protein (p.Thr40Met). This variant is present in population databases (rs782122417, gnomAD 0.002%). This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 32013205). ClinVar contains an entry for this variant (Variation ID: 657757). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |
Fulgent Genetics, |
RCV002501114 | SCV002775557 | uncertain significance | Myofibrillar myopathy 2; Cataract 16 multiple types; Fatal infantile hypertonic myofibrillar myopathy; Dilated cardiomyopathy 1II | 2021-09-04 | criteria provided, single submitter | clinical testing |