ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1978G>A (p.Asp660Asn)

gnomAD frequency: 0.00001  dbSNP: rs1442071380
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002000833 SCV002274742 uncertain significance Myofibrillar myopathy 4 2021-10-29 criteria provided, single submitter clinical testing 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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 variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 660 of the LDB3 protein (p.Asp660Asn). This variant also falls at the last nucleotide of exon 12, which is part of the consensus splice site for this exon. The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.*19473G>A in the primary transcript.

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