ClinVar Miner

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

gnomAD frequency: 0.00057  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 2021-09-02 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25351510)
Ambry Genetics RCV000619838 SCV000736758 uncertain significance Cardiovascular phenotype 2019-01-14 criteria provided, single submitter clinical testing The p.A346T variant (also known as c.1036G>A), located in coding exon 7 of the LDB3 gene, results from a G to A substitution at nucleotide position 1036. The alanine at codon 346 is replaced by threonine, an amino acid with similar properties. This variant has been reported in a hypertrophic cardiomyopathy cohort; however, clinical details were limited (Lopes LR et al. Heart, 2015 Feb;101:294-301). This amino acid position is not well conserved in available vertebrate species, and threonine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
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 2020-12-03 criteria provided, single submitter clinical testing

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