ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.443G>A (p.Arg148Gln)

gnomAD frequency: 0.00001  dbSNP: rs751254270
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000171989 SCV000054752 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000171989 SCV002050505 uncertain significance not provided 2021-07-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Located in an alternate transcript of the LDB3 gene; This variant is associated with the following publications: (PMID: 27535533)
Labcorp Genetics (formerly Invitae), Labcorp RCV001852091 SCV002158350 uncertain significance Myofibrillar myopathy 4 2024-07-26 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.321+1400G>A in the primary transcript. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 148 of the LDB3 protein (p.Arg148Gln). 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. ClinVar contains an entry for this variant (Variation ID: 191695). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Ambry Genetics RCV002326945 SCV002633183 likely benign Cardiovascular phenotype 2022-01-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002500447 SCV002784137 uncertain significance Dilated cardiomyopathy 1C; Myofibrillar myopathy 4 2021-08-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000171989 SCV005190898 uncertain significance not provided criteria provided, single submitter not provided

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