ClinVar Miner

Submissions for variant NM_001368067.1(LDB3):c.766G>A (p.Glu256Lys)

gnomAD frequency: 0.00001  dbSNP: rs774307690
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001209491 SCV001380928 uncertain significance Myofibrillar myopathy 4 2022-08-15 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. ClinVar contains an entry for this variant (Variation ID: 940001). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is present in population databases (rs774307690, gnomAD 0.0009%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 256 of the LDB3 protein (p.Glu256Lys).

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