Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Diagnostics Services |
RCV002465027 | SCV002759420 | uncertain significance | Dilated cardiomyopathy 1C | 2022-07-29 | criteria provided, single submitter | clinical testing | The c.1622G>A variant is not present in publicly available population databases like 1000 Genomes, EVS, ExAC, gnomAD and Indian Exome Database. The variant is not present in our in-house exome database. The variant was not reported to ClinVar, HGMD and/or OMIM databases, in any affected individuals. In-silico pathogenicity prediction programs like Polyphen-2, MutationTaster2, CADD etc. predicted this variant to be likely deleterious, however these predictions were not confirmed by any published functional studies. |
| Invitae | RCV002569344 | SCV003508417 | uncertain significance | Myofibrillar myopathy 4 | 2022-06-22 | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with LDB3-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 541 of the LDB3 protein (p.Arg541Gln). The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.*17343G>A in the primary transcript. |