ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1094C>T (p.Ala365Val)

gnomAD frequency: 0.00001  dbSNP: rs747011937
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001243778 SCV001416960 uncertain significance Myofibrillar myopathy 4 2022-06-04 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is present in population databases (rs747011937, gnomAD 0.03%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 365 of the LDB3 protein (p.Ala365Val). The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.*10539C>T in the primary transcript.
Ambry Genetics RCV002451594 SCV002735745 uncertain significance Cardiovascular phenotype 2019-10-24 criteria provided, single submitter clinical testing The p.A365V variant (also known as c.1094C>T), located in coding exon 8 of the LDB3 gene, results from a C to T substitution at nucleotide position 1094. The alanine at codon 365 is replaced by valine, an amino acid with similar properties. This amino acid position is poorly 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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