ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1071T>A (p.Pro357=)

gnomAD frequency: 0.00009  dbSNP: rs143823978
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Total submissions: 5
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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 RCV000154748 SCV000204428 likely benign not specified 2015-09-10 criteria provided, single submitter clinical testing p.Pro357Pro in exon 10 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 6/57332 European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs143823978).
GeneDx RCV001534591 SCV000534646 likely benign not provided 2020-11-18 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769286 SCV000900664 likely benign Cardiomyopathy 2021-04-21 criteria provided, single submitter clinical testing
Invitae RCV001240925 SCV001413908 uncertain significance Myofibrillar myopathy 4 2023-12-18 criteria provided, single submitter clinical testing The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.*7331T>A in the primary transcript. This sequence change affects codon 357 of the LDB3 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the LDB3 protein. This variant is present in population databases (rs143823978, gnomAD 0.01%). This variant has been observed in individual(s) with clinical features of myofibrillar myopathy (Invitae). ClinVar contains an entry for this variant (Variation ID: 178060). Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. 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.
Ambry Genetics RCV002415657 SCV002721368 likely benign Cardiovascular phenotype 2019-09-19 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.

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