Submissions for variant NM_007078.3(LDB3):c.742G>A (p.Ala248Thr)

gnomAD frequency: 0.00001  dbSNP: rs369419493

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Fulgent Genetics, Fulgent Genetics	RCV002495851	SCV002776878	uncertain significance	Dilated cardiomyopathy 1C; Myofibrillar myopathy 4	2021-10-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003161063	SCV003860812	uncertain significance	Cardiovascular phenotype	2022-11-17	criteria provided, single submitter	clinical testing	The p.A248T variant (also known as c.742G>A), located in coding exon 5 of the LDB3 gene, results from a G to A substitution at nucleotide position 742. The alanine at codon 248 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Dept of Medical Biology, Uskudar University	RCV003318402	SCV004022013	uncertain significance	Long QT syndrome	2024-01-08	criteria provided, single submitter	research	Criteria: PM2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528569	SCV001740502	uncertain significance	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001528569	SCV001808092	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001528569	SCV001963848	uncertain significance	not provided		no assertion criteria provided	clinical testing