ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.2050G>A (p.Glu684Lys)

gnomAD frequency: 0.00003  dbSNP: rs754552434
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001300843 SCV001489993 uncertain significance Myofibrillar myopathy 4 2024-07-15 criteria provided, single submitter clinical testing The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.*26834G>A in the primary transcript. This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 684 of the LDB3 protein (p.Glu684Lys). This variant is present in population databases (rs754552434, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Ambry Genetics RCV002418907 SCV002726544 uncertain significance Cardiovascular phenotype 2024-01-09 criteria provided, single submitter clinical testing The c.2050G>A (p.E684K) alteration is located in exon 12 (coding exon 12) of the LDB3 gene. This alteration results from a G to A substitution at nucleotide position 2050, causing the glutamic acid (E) at amino acid position 684 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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