ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.159C>T (p.Asp53=)

gnomAD frequency: 0.00016  dbSNP: rs200114285
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Total submissions: 3
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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 RCV000155798 SCV000205509 likely benign not specified 2014-02-20 criteria provided, single submitter clinical testing p.Asp53Asp in exon 2 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 0.5% (1/194) of Han Chinese chromosomes from a broad population by the 1000 Genomes Project (http:// www.ncbi.nlm.nih.gov/projects/SNP; dbSNP rs200114285).
Invitae RCV001517674 SCV001726221 benign Myofibrillar myopathy 4 2023-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399553 SCV002706331 likely benign Cardiovascular phenotype 2018-03-06 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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