ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.686G>T (p.Gly229Val)

dbSNP: rs1131691665
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000492931 SCV000582595 likely pathogenic not provided 2017-10-06 criteria provided, single submitter clinical testing The G229V variant in the LDB3 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G229V variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G229V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. The G229V variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.

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