ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.428G>A (p.Ser143Asn)

gnomAD frequency: 0.00003  dbSNP: rs201773873
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001569319 SCV001793371 uncertain significance not provided 2023-04-21 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this variant does not alter splicing; Located in an alternate transcript of the LDB3 gene
Labcorp Genetics (formerly Invitae), Labcorp RCV002072193 SCV002460902 uncertain significance Myofibrillar myopathy 4 2023-05-23 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.321+1385G>A in the primary transcript. This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 143 of the LDB3 protein (p.Ser143Asn). This variant is present in population databases (no rsID available, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1203323). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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 RCV002329677 SCV002631812 uncertain significance Cardiovascular phenotype 2024-09-08 criteria provided, single submitter clinical testing The p.S143N variant (also known as c.428G>A), located in coding exon 4 of the LDB3 gene, results from a G to A substitution at nucleotide position 428. The serine at codon 143 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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