ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1225C>A (p.Gln409Lys)

gnomAD frequency: 0.00004  dbSNP: rs139104492
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000344660 SCV000329396 likely benign not provided 2023-10-06 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Invitae RCV000539708 SCV000638683 uncertain significance Myofibrillar myopathy 4 2023-12-12 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.*10670C>A in the primary transcript. This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 409 of the LDB3 protein (p.Gln409Lys). This variant is present in population databases (rs139104492, gnomAD 0.03%). This missense change has been observed in individual(s) with inclusion body myositis (PMID: 25617006). This variant is also known as c.1240C>A (p.Q414K). 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.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV001256802 SCV001433255 uncertain significance Dilated cardiomyopathy 1A 2020-03-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365290 SCV002658956 uncertain significance Cardiovascular phenotype 2021-12-01 criteria provided, single submitter clinical testing The p.Q409K variant (also known as c.1225C>A), located in coding exon 8 of the LDB3 gene, results from a C to A substitution at nucleotide position 1225. The glutamine at codon 409 is replaced by lysine, an amino acid with similar properties. This variant was reported (as NM_001171610.1: p.Q414K) in one individual from a sporadic inclusion body myositis cohort; however, limited clinical details were provided (Weihl CC et al. Neuromuscul. Disord., 2015 Apr;25:289-96). 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.
Fulgent Genetics, Fulgent Genetics RCV002494808 SCV002776625 uncertain significance Dilated cardiomyopathy 1C; Myofibrillar myopathy 4 2021-10-07 criteria provided, single submitter clinical testing

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