ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.196C>T (p.Gln66Ter)

dbSNP: rs1554849100
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000639874 SCV000761457 uncertain significance Myofibrillar myopathy 4 2022-07-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln66*) in the LDB3 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in LDB3 cause disease. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. ClinVar contains an entry for this variant (Variation ID: 532932). 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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