ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.212C>G (p.Ser71Cys)

dbSNP: rs772249948
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001765346 SCV001998007 uncertain significance not provided 2019-10-10 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Ambry Genetics RCV002421261 SCV002728515 uncertain significance Cardiovascular phenotype 2022-09-12 criteria provided, single submitter clinical testing The p.S71C variant (also known as c.212C>G), located in coding exon 2 of the LDB3 gene, results from a C to G substitution at nucleotide position 212. The serine at codon 71 is replaced by cysteine, an amino acid with dissimilar 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.
Invitae RCV002544062 SCV003287379 uncertain significance Myofibrillar myopathy 4 2023-07-08 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 71 of the LDB3 protein (p.Ser71Cys). This variant is present in population databases (rs772249948, gnomAD 0.0009%). 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: 1309177). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.

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