Submissions for variant NM_007078.3(LDB3):c.1115T>C (p.Val372Ala)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV002302536	SCV002598852	uncertain significance	not specified	2022-09-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV003098025	SCV003242976	uncertain significance	Myofibrillar myopathy 4	2022-06-21	criteria provided, single submitter	clinical testing	This variant has not been reported in the literature in individuals affected with LDB3-related conditions. The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.*10560T>C in the primary transcript. This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 372 of the LDB3 protein (p.Val372Ala). This variant is present in population databases (rs202247419, gnomAD 0.01%). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.