ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.395C>T (p.Thr132Ile)

gnomAD frequency: 0.00001  dbSNP: rs146527589
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001417978 SCV001620192 uncertain significance Myofibrillar myopathy 4 2023-05-23 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. 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: 1096656). This missense change has been observed in individual(s) with clinical features of myofibrillar myopathy (Invitae). This variant is present in population databases (rs146527589, gnomAD 0.01%). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 132 of the LDB3 protein (p.Thr132Ile). 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+1352C>T in the primary transcript.

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