ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1036G>A (p.Ala346Thr)

gnomAD frequency: 0.00054  dbSNP: rs201968775
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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 RCV000150925 SCV000198561 likely benign not specified 2017-11-06 criteria provided, single submitter clinical testing p.Ala346Thr in exon 10 of LDB3: This variant is not expected to have clinical si gnificance due to frequency in the general population and a lack of conservation across species, including mammals. Of note, 4 non-human primates have a threoni ne (Thr) at this position. In addition, computational prediction tools do not su ggest a high likelihood of impact to the protein. It has also been identified in 0.13% (31/23778) of African chromosomes by the Genome Aggregation Database (gno mAD, http://gnomad.broadinstitute.org; dbSNP rs201968775). ACMG/AMP Criteria app lied: BS1, BP4 (Richards 2015).
GeneDx RCV000732675 SCV000235983 likely benign not provided 2022-10-25 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV000619838 SCV000736758 likely benign Cardiovascular phenotype 2021-03-18 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.
Eurofins Ntd Llc (ga) RCV000732675 SCV000860653 uncertain significance not provided 2018-04-20 criteria provided, single submitter clinical testing
Invitae RCV001411199 SCV001613256 likely benign Myofibrillar myopathy 4 2023-12-25 criteria provided, single submitter clinical testing

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