ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1256C>A (p.Ser419Tyr)

gnomAD frequency: 0.00002  dbSNP: rs368888118
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721143 SCV000236001 likely benign not provided 2021-05-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000807283 SCV000947328 uncertain significance Myofibrillar myopathy 4 2024-10-16 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.*16977C>A in the primary transcript. This sequence change replaces serine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 419 of the LDB3 protein (p.Ser419Tyr). This variant is present in population databases (rs368888118, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV002415784 SCV002677557 uncertain significance Cardiovascular phenotype 2024-01-05 criteria provided, single submitter clinical testing The p.S419Y variant (also known as c.1256C>A), located in coding exon 9 of the LDB3 gene, results from a C to A substitution at nucleotide position 1256. The serine at codon 419 is replaced by tyrosine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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