ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1435G>A (p.Gly479Arg)

gnomAD frequency: 0.00002  dbSNP: rs370521488
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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 RCV001245092 SCV001418357 uncertain significance Myofibrillar myopathy 4 2024-10-06 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.*17156G>A in the primary transcript. This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 479 of the LDB3 protein (p.Gly479Arg). This variant is present in population databases (rs370521488, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. ClinVar contains an entry for this variant (Variation ID: 807925). 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001799020 SCV002043374 uncertain significance Cardiomyopathy 2021-04-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000996137 SCV002049295 uncertain significance not provided 2021-03-02 criteria provided, single submitter clinical testing The LDB3 c.1435G>A; p.Gly479Arg variant (rs370521488), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 807925). This variant is found in the general population with an allele frequency of 0.006% (15/249002 alleles) in the Genome Aggregation Database. The Glycine at codon 479 is weakly conserved, and computational analyses predict that this variant is neutral (REVEL: 0.016). However, given the lack of clinical and functional data, the significance of the p.Gly479Arg variant is uncertain at this time.
Ambry Genetics RCV002391057 SCV002702844 uncertain significance Cardiovascular phenotype 2022-10-14 criteria provided, single submitter clinical testing The p.G479R variant (also known as c.1435G>A), located in coding exon 9 of the LDB3 gene, results from a G to A substitution at nucleotide position 1435. The glycine at codon 479 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species; however, arginine 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.

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