ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1603_1605delinsTGCCACTCA (p.Thr535delinsCysHisSer)

dbSNP: rs1589675306
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000816073 SCV000956563 uncertain significance Myofibrillar myopathy 4 2018-10-12 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acids is currently unknown. This variant has not been reported in the literature in individuals with LDB3-related disease. This variant is not present in population databases (ExAC no frequency). This variant, c.1603_1605delinsTGCCACTCA, results in the deletion of 1 amino acid and insertion of 3 amino acids of the LDB3 protein (p.Thr535delinsCysHisSer), but otherwise preserves the integrity of the reading frame. The LDB3 gene has multiple clinically relevant transcripts. The c.1603_1605delinsTGCCACTCA variant occurs in alternate transcript NM_007078.2 which corresponds to position c.*17324_*17326 in NM_001080116.1, the primary transcript listed in the Methods. 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.
Ambry Genetics RCV002397697 SCV002706397 uncertain significance Cardiovascular phenotype 2022-09-07 criteria provided, single submitter clinical testing The c.1603_1605delACCinsTGCCACTCA variant, located in coding exon 9 of the LDB3 gene, results from an in-frame deletion of ACC and insertion of TGCCACTCA at nucleotide positions 1603 to 1605. This results in the substitution of the threonine residue for a residue at codon 535, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002487795 SCV002781870 uncertain significance Dilated cardiomyopathy 1C; Myofibrillar myopathy 4 2021-07-12 criteria provided, single submitter clinical testing

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