ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.451G>A (p.Ala151Thr)

gnomAD frequency: 0.00004  dbSNP: rs780578350
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001504494 SCV001709374 likely benign Myofibrillar myopathy 4 2020-03-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336857 SCV002640157 uncertain significance Cardiovascular phenotype 2021-11-04 criteria provided, single submitter clinical testing The p.A151T variant (also known as c.451G>A), located in coding exon 4 of the LDB3 gene, results from a G to A substitution at nucleotide position 451. The alanine at codon 151 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. 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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