ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.467C>T (p.Ala156Val)

gnomAD frequency: 0.00001  dbSNP: rs1243384140
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001404095 SCV001605985 uncertain significance Myofibrillar myopathy 4 2023-09-07 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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+1424C>T in the primary transcript. This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 156 of the LDB3 protein ( p.Ala156Val). This variant is present in population databases (no rsID available, gnomAD 0.007%). 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: 1086373). 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 RCV002329433 SCV002634482 uncertain significance Cardiovascular phenotype 2023-03-20 criteria provided, single submitter clinical testing The p.A156V variant (also known as c.467C>T), located in coding exon 4 of the LDB3 gene, results from a C to T substitution at nucleotide position 467. The alanine at codon 156 is replaced by valine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. 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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