ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1167C>T (p.Ala389=)

dbSNP: rs768844187
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Total submissions: 6
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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 RCV000215057 SCV000270352 likely benign not specified 2015-06-11 criteria provided, single submitter clinical testing p.Ala389Ala in exon 11 of LDB3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.2% (25/16416) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs768844187).
Invitae RCV000231879 SCV000289614 benign Myofibrillar myopathy 4 2024-01-02 criteria provided, single submitter clinical testing
GeneDx RCV001571800 SCV001796334 likely benign not provided 2020-03-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002327078 SCV002632756 likely benign Cardiovascular phenotype 2020-04-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003937828 SCV004748772 likely benign LDB3-related disorder 2019-06-05 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Cytogenetics- Mohapatra Lab, Banaras Hindu University RCV001293334 SCV001481922 uncertain significance Dilated cardiomyopathy 1C 2014-12-15 no assertion criteria provided case-control

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