Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000542903 | SCV000638669 | benign | Myofibrillar myopathy 4 | 2024-12-23 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002350264 | SCV002648370 | likely benign | Cardiovascular phenotype | 2023-10-27 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV005239172 | SCV005886469 | likely benign | not specified | 2025-02-14 | criteria provided, single submitter | clinical testing | Variant summary: LDB3 c.560C>T (p.Pro187Leu) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00012 in 249554 control chromosomes. The observed variant frequency is approximately 2 fold of the estimated maximal expected allele frequency for a pathogenic variant in LDB3 causing Hypertrophic Cardiomyopathy phenotype (7.5e-05). To our knowledge, no occurrence of c.560C>T in individuals affected with Hypertrophic Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 464273). Based on the evidence outlined above, the variant was classified as likely benign. |