ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.328G>A (p.Ala110Thr)

gnomAD frequency: 0.00001  dbSNP: rs768737496
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183514 SCV000235974 likely benign not specified 2014-05-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001506628 SCV001711556 uncertain significance Myofibrillar myopathy 4 2023-09-30 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+1285G>A in the primary transcript. This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 110 of the LDB3 protein (p.Ala110Thr). This variant is present in population databases (rs768737496, gnomAD 0.005%). 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: 201835). 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.
Fulgent Genetics, Fulgent Genetics RCV002503716 SCV002799991 likely benign Dilated cardiomyopathy 1C; Myofibrillar myopathy 4 2021-09-30 criteria provided, single submitter clinical testing

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