ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.732C>T (p.Pro244=)

gnomAD frequency: 0.00034  dbSNP: rs144509718
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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 RCV000038767 SCV000062445 likely benign not specified 2012-04-12 criteria provided, single submitter clinical testing Pro244Pro in Exon 07 of LDB3: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 0.1% (5/3738) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs144509718). Pro244Pro in Exo n 07 of LDB3 (rs144509718; allele frequency = 0.1%, 5/3738) **
GeneDx RCV000477176 SCV000528385 likely benign not provided 2020-10-13 criteria provided, single submitter clinical testing
Invitae RCV001079371 SCV000557555 benign Myofibrillar myopathy 4 2024-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617861 SCV000735194 likely benign Cardiovascular phenotype 2015-10-23 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 RCV003924936 SCV004743292 likely benign LDB3-related disorder 2020-12-08 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).

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