ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.917C>T (p.Pro306Leu)

gnomAD frequency: 0.00001  dbSNP: rs955622381
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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 RCV001978992 SCV002222394 uncertain significance Myofibrillar myopathy 4 2022-12-20 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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. 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 sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 306 of the LDB3 protein (p.Pro306Leu). The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.*7177C>T in the primary transcript.
Ambry Genetics RCV002442919 SCV002683263 uncertain significance Cardiovascular phenotype 2021-08-31 criteria provided, single submitter clinical testing The p.P306L variant (also known as c.917C>T), located in coding exon 7 of the LDB3 gene, results from a C to T substitution at nucleotide position 917. The proline at codon 306 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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