ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1502C>T (p.Ala501Val) (rs755362259)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489670 SCV000577562 uncertain significance not provided 2018-07-17 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the LDB3 gene. The A501V variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). However, the A501V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Finally, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Fulgent Genetics,Fulgent Genetics RCV000763675 SCV000894555 uncertain significance Dilated cardiomyopathy 1C; Myofibrillar myopathy, ZASP-related 2018-10-31 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852432 SCV000995116 uncertain significance Cardiomyopathy 2018-05-02 criteria provided, single submitter clinical testing
Invitae RCV001320697 SCV001511492 uncertain significance Myofibrillar myopathy, ZASP-related 2020-03-09 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 501 of the LDB3 protein (p.Ala501Val). The alanine residue is moderately conserved and there is a small physicochemical difference between the two amino acids. The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.*17223C>T in the primary transcript. This variant is present in population databases (rs755362259, ExAC 0.005%). This variant has been observed in individual(s) with clinical features of LDB3-related myopathy (Invitae). ClinVar contains an entry for this variant (Variation ID: 426972). 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.

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