ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.10A>C (p.Ser4Arg)

dbSNP: rs727505295
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156828 SCV000206549 uncertain significance not specified 2014-10-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003611499 SCV004473457 uncertain significance Myofibrillar myopathy 4 2023-08-14 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 4 of the LDB3 protein (p.Ser4Arg). This missense change has been observed in individual(s) with left ventricular noncompaction (PMID: 33500567). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 180025).

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