ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.954C>T (p.Pro318=)

gnomAD frequency: 0.00168  dbSNP: rs45603139
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Total submissions: 10
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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 RCV000038774 SCV000062452 benign not specified 2012-04-18 criteria provided, single submitter clinical testing Pro318Pro in Exon 10 of LDB3: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence and has been identified in 0.5% (17/3738) of Afric an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS; dbSNP rs45603139).
Ambry Genetics RCV000619611 SCV000736935 likely benign Cardiovascular phenotype 2017-08-10 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000038774 SCV001519607 benign not specified 2021-03-11 criteria provided, single submitter clinical testing
Invitae RCV001515440 SCV001723519 benign Myofibrillar myopathy 4 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001659976 SCV001874422 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003952437 SCV004782461 benign LDB3-related disorder 2019-09-18 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center RCV000038774 SCV001920958 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000038774 SCV001928195 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001659976 SCV001955556 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001659976 SCV001971559 likely benign not provided no assertion criteria provided clinical testing

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