ClinVar Miner

Submissions for variant NM_001368067.1(LDB3):c.410C>T (p.Pro137Leu)

gnomAD frequency: 0.00002  dbSNP: rs938329394
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001900264 SCV002142454 uncertain significance Myofibrillar myopathy 4 2023-03-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 137 of the LDB3 protein (p.Pro137Leu). ClinVar contains an entry for this variant (Variation ID: 1373060). 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. 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 tolerated.

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