ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1041C>T (p.Ser347=)

dbSNP: rs45555240
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Total submissions: 4
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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 RCV000038716 SCV000062394 likely benign not specified 2017-03-30 criteria provided, single submitter clinical testing p.Ser347Ser 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 5/16408 South Asia n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs45555240).
GeneDx RCV000827129 SCV000968751 likely benign not provided 2018-05-11 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.
Invitae RCV001439816 SCV001642710 likely benign Myofibrillar myopathy 4 2023-08-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390159 SCV002703632 likely benign Cardiovascular phenotype 2021-12-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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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