ClinVar Miner

Submissions for variant NM_001368067.1(LDB3):c.430G>A (p.Gly144Ser)

gnomAD frequency: 0.00001  dbSNP: rs915830221
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626096 SCV000746721 uncertain significance Left ventricular noncompaction 1 2017-12-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000996131 SCV001150614 uncertain significance not provided 2018-07-01 criteria provided, single submitter clinical testing
Invitae RCV001068174 SCV001233266 uncertain significance Myofibrillar myopathy 4 2023-03-29 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 522902). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is present in population databases (no rsID available, gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 144 of the LDB3 protein (p.Gly144Ser).
Revvity Omics, Revvity RCV000996131 SCV003816492 uncertain significance not provided 2023-03-15 criteria provided, single submitter clinical testing

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