ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.526G>A (p.Gly176Arg)

dbSNP: rs149167391
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000238905 SCV000297053 uncertain significance not specified 2015-07-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001459461 SCV001663300 uncertain significance Myofibrillar myopathy 4 2023-05-23 criteria provided, single submitter clinical testing This variant is present in population databases (rs149167391, gnomAD 0.05%), including at least one homozygous and/or hemizygous individual. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 252554). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 176 of the LDB3 protein (p.Gly176Arg). The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.321+1483G>A in the primary transcript.

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