ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1779G>C (p.Gln593His)

dbSNP: rs1291914478
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619498 SCV000736099 uncertain significance Cardiovascular phenotype 2017-11-13 criteria provided, single submitter clinical testing The p.Q593H variant (also known as c.1779G>C), located in coding exon 10 of the LDB3 gene, results from a G to C substitution at nucleotide position 1779. The glutamine at codon 593 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV001770546 SCV001993924 uncertain significance not provided 2019-07-02 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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