ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.2017G>A (p.Asp673Asn)

gnomAD frequency: 0.00004  dbSNP: rs45514002
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414354 SCV000490601 uncertain significance not provided 2020-12-30 criteria provided, single submitter clinical testing Previously reported to segregate with DCM and LVNC (reported at D626N due to alternative nomenclature) in multiple unrelated families int he published literature (Arimura et al., 2004; Xing et al., 2006; Hata et al., 2016); Previously reported in a patient with epilepsy who experienced sudden death and who was found to have mild hyper-trabeculation of left ventricle and dilatation of right ventricle on autopsy; this individual also harbored a variant in another cardiac-related gene (Hata et al., 2016); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 4735; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 14660611, 16427346, 23558691, 27135274, 31024045)
Labcorp Genetics (formerly Invitae), Labcorp RCV000639879 SCV000761462 likely benign Myofibrillar myopathy 4 2024-12-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415398 SCV002723680 likely benign Cardiovascular phenotype 2022-11-18 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 RCV002490317 SCV002782197 uncertain significance Dilated cardiomyopathy 1C; Myofibrillar myopathy 4 2021-12-10 criteria provided, single submitter clinical testing
OMIM RCV000005000 SCV000025176 pathogenic Dilated cardiomyopathy 1C 2006-05-01 no assertion criteria provided literature only
OMIM RCV000005001 SCV000025177 pathogenic Left ventricular noncompaction 3 2006-05-01 no assertion criteria provided literature only
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare RCV000414354 SCV004175037 uncertain significance not provided 2021-01-05 no assertion criteria provided clinical testing

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