ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.948_957dup (p.Ser320fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002374067 SCV002686939 uncertain significance Cardiovascular phenotype 2020-09-15 criteria provided, single submitter clinical testing The c.948_957dup10 variant, located in coding exon 7 of the LDB3 gene, results from a duplication of GCTGCCCGCT at nucleotide position 948, causing a translational frameshift with a predicted alternate stop codon (p.S320Afs*70). This alteration is expected to result in premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of LDB3 has not been clearly established as a mechanism of disease. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005097343 SCV005832351 pathogenic Myofibrillar myopathy 4 2024-11-03 criteria provided, single submitter clinical testing The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.*7217_*7218insGCTGCCCGCT in the primary transcript. This sequence change creates a premature translational stop signal (p.Ser320Alafs*70) in the LDB3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LDB3 are known to be pathogenic (PMID: 36253531). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. For these reasons, this variant has been classified as Pathogenic.

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