Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001952422 | SCV002203534 | uncertain significance | Myofibrillar myopathy 4 | 2021-04-04 | 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 with LDB3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with lysine at codon 645 of the LDB3 protein (p.Asn645Lys). The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.*19430C>G in the primary transcript. |
Ambry Genetics | RCV004041945 | SCV003579399 | uncertain significance | Cardiovascular phenotype | 2021-10-12 | criteria provided, single submitter | clinical testing | The c.1935C>G (p.N645K) alteration is located in exon 11 (coding exon 11) of the LDB3 gene. This alteration results from a C to G substitution at nucleotide position 1935, causing the asparagine (N) at amino acid position 645 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |