ClinVar Miner

Submissions for variant NM_001377540.1(SLMAP):c.436_441del (p.Leu146_Pro147del)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003070418 SCV003475753 uncertain significance Brugada syndrome 2023-12-04 criteria provided, single submitter clinical testing This variant, c.436_441del, results in the deletion of 2 amino acid(s) of the SLMAP protein (p.Leu146_Pro147del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SLMAP-related conditions. ClinVar contains an entry for this variant (Variation ID: 2162779). 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.
Dept of Medical Biology, Uskudar University RCV003318420 SCV004022081 uncertain significance Long QT syndrome 2024-01-08 criteria provided, single submitter research Criteria: PM2, PM4

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