ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.343G>A (p.Gly115Ser)

gnomAD frequency: 0.00001  dbSNP: rs397517222
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038755 SCV000062433 uncertain significance not specified 2012-01-05 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Gly115Ser varia nt (LDB3) has been identified in 1 individual with DCM out of >500 Caucasian pro bands (>1000 chromosomes) and was absent from 368 Caucasian and 372 Black contro l chromosomes tested by our laboratory. Glycine (Gly) at position 115 is not con served in mammals and several other mammals have a serine (Ser) at this position , increasing the likelihood that a change may be tolerated. Computational tools are mixed in the prediction of the pathogenicity of this variant (AlignGVGD & SI FT = benign, PolyPhen2 = pathogenic), though the accuracy of these tools is unkn own. Additional information is needed to fully assess the clinical significance of the Gly115Ser variant.
Fulgent Genetics, Fulgent Genetics RCV002504900 SCV002816279 uncertain significance Dilated cardiomyopathy 1C; Myofibrillar myopathy 4 2021-09-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV003162340 SCV003859914 uncertain significance Cardiovascular phenotype 2022-11-04 criteria provided, single submitter clinical testing The p.G115S variant (also known as c.343G>A), located in coding exon 4 of the LDB3 gene, results from a G to A substitution at nucleotide position 343. The glycine at codon 115 is replaced by serine, an amino acid with similar properties. This alteration has been reported in a dilated cardiomyopathy cohort and a limb girdle muscular dystrophy cohort (Aurino S et al. Acta Myol, 2008 Dec;27:90-7; Pugh TJ et al. Genet Med, 2014 Aug;16:601-8). This amino acid position is well 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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