Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001889549 | SCV002163388 | uncertain significance | Dilated cardiomyopathy 1II | 2023-11-11 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 14 of the CRYAB protein (p.Phe14Ser). This variant is not present in population databases (gnomAD no frequency). 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: 1390439). 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. |
Institute of Human Genetics, |
RCV002255190 | SCV002526707 | uncertain significance | Myofibrillar myopathy 2 | 2022-05-18 | criteria provided, single submitter | clinical testing | _x000D_ Criteria applied: PM1, PM2_SUP, PP3 |
Ambry Genetics | RCV004039138 | SCV005017978 | uncertain significance | Cardiovascular phenotype | 2023-11-08 | criteria provided, single submitter | clinical testing | The p.F14S variant (also known as c.41T>C), located in coding exon 1 of the CRYAB gene, results from a T to C substitution at nucleotide position 41. The phenylalanine at codon 14 is replaced by serine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |