ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1971C>T (p.Cys657=) (rs140552419)

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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,Partners HealthCare Personalized Medicine RCV000038747 SCV000062425 likely benign not specified 2016-04-27 criteria provided, single submitter clinical testing p.Cys657Cys in exon 14 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 11/66394 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs140552419).
Invitae RCV000233347 SCV000289620 uncertain significance Myofibrillar myopathy, ZASP-related 2016-02-15 criteria provided, single submitter clinical testing This sequence change affects codon 657 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 (rs140552419, ExAC 0.02%) but has not been reported in the literature in individuals with a LDB3-related disease. ClinVar contains an entry for this variant (Variation ID: 45537). Algorithms developed to predict the effect of silent changes on mRNA splicing suggest that this variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare silent change with uncertain impact on protein function. There is no indication that this variant causes disease, but the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV000038747 SCV000515769 likely benign not specified 2017-08-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000618465 SCV000736614 likely benign Cardiovascular phenotype 2016-06-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000867236 SCV001008439 likely benign not provided 2019-01-31 criteria provided, single submitter clinical testing

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