ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1312A>G (p.Thr438Ala)

gnomAD frequency: 0.00048  dbSNP: rs111941389
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000689386 SCV000817034 uncertain significance Myofibrillar myopathy 4 2023-02-28 criteria provided, single submitter clinical testing The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.*17033A>G in the primary transcript. This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 438 of the LDB3 protein (p.Thr438Ala). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with LDB3-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001559017 SCV001781075 likely benign not provided 2022-05-27 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV002386180 SCV002694435 uncertain significance Cardiovascular phenotype 2021-04-12 criteria provided, single submitter clinical testing The p.T438A variant (also known as c.1312A>G), located in coding exon 9 of the LDB3 gene, results from an A to G substitution at nucleotide position 1312. The threonine at codon 438 is replaced by alanine, an amino acid with similar properties. This amino acid position is not well conserved in available 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.

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