ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1789T>A (p.Tyr597Asn)

gnomAD frequency: 0.00003  dbSNP: rs727503131
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468173 SCV000545684 uncertain significance Myofibrillar myopathy 4 2023-08-04 criteria provided, single submitter clinical testing The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.*18702T>A in the primary transcript. This sequence change replaces tyrosine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 597 of the LDB3 protein (p.Tyr597Asn). This variant is present in population databases (rs727503131, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. 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.

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