ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.2074G>A (p.Asp692Asn)

gnomAD frequency: 0.00002  dbSNP: rs754529329
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001248191 SCV001421660 uncertain significance Myofibrillar myopathy 4 2019-06-19 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 692 of the LDB3 protein (p.Asp692Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. The LDB3 gene has multiple clinically relevant isoforms. The p.Asp692Asn variant occurs in alternate transcript NM_007078.2, which corresponds to c.*26858G>A in NM_001080116.1, the primary transcript listed in the Methods. This variant is present in population databases (rs754529329, ExAC 0.009%). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with LDB3-related conditions.
Ambry Genetics RCV002418853 SCV002729807 uncertain significance Cardiovascular phenotype 2023-05-23 criteria provided, single submitter clinical testing The p.D692N variant (also known as c.2074G>A), located in coding exon 12 of the LDB3 gene, results from a G to A substitution at nucleotide position 2074. The aspartic acid at codon 692 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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