ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.23C>A (p.Thr8Asn)

dbSNP: rs1060501317
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462573 SCV000545686 uncertain significance Myofibrillar myopathy 4 2022-11-29 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 406807). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 8 of the LDB3 protein (p.Thr8Asn).
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000786156 SCV000924839 uncertain significance not provided 2016-12-27 no assertion criteria provided provider interpretation

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