ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.541C>T (p.Leu181Phe)

dbSNP: rs1589623326
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001400268 SCV001602072 likely benign Myofibrillar myopathy 4 2018-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002346183 SCV002647919 uncertain significance Cardiovascular phenotype 2021-10-06 criteria provided, single submitter clinical testing The p.L181F variant (also known as c.541C>T), located in coding exon 4 of the LDB3 gene, results from a C to T substitution at nucleotide position 541. The leucine at codon 181 is replaced by phenylalanine, an amino acid with highly 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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