ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1289C>A (p.Thr430Asn)

gnomAD frequency: 0.00007  dbSNP: rs746183666
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000457299 SCV000545671 uncertain significance Myofibrillar myopathy 4 2024-02-02 criteria provided, single submitter clinical testing The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_001171610.1, and corresponds to NM_001080116.1:c.*17010C>A in the primary transcript. This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 435 of the LDB3 protein (p.Thr435Asn). 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002469 SCV001160416 uncertain significance not specified 2019-04-01 criteria provided, single submitter clinical testing The p.Thr435Asn variant (rs746183666) has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the Genome Aggregation Database (gnomAD) with an overall frequency of 0.01 percent in the African population (identified on 3 out of 23,778 chromosomes) and has been reported to the ClinVar database (Variation ID: 406798). The threonine at position 435 is highly conserved and computational analyses of the effects of the p.Thr435Asn variant on protein structure and function is neutral (SIFT: tolerated, PolyPhen-2: benign). Altogether, there is not enough evidence to classify the p.Thr435Asn variant with certainty.
Ambry Genetics RCV002379434 SCV002689481 uncertain significance Cardiovascular phenotype 2021-03-02 criteria provided, single submitter clinical testing The p.T430N variant (also known as c.1289C>A), located in coding exon 9 of the LDB3 gene, results from a C to A substitution at nucleotide position 1289. The threonine at codon 430 is replaced by asparagine, an amino acid with similar properties. This amino acid position is highly 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.
Fulgent Genetics, Fulgent Genetics RCV002481408 SCV002786917 uncertain significance Dilated cardiomyopathy 1C; Myofibrillar myopathy 4 2021-07-09 criteria provided, single submitter clinical testing

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