ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.2523_2528del (p.Ser842_Gly843del)

dbSNP: rs1681214533
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001794848 SCV002032851 uncertain significance not provided 2023-08-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 2 amino acids in a non-repeat region; In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001885220 SCV002155002 uncertain significance Intellectual disability, autosomal dominant 1 2024-11-26 criteria provided, single submitter clinical testing This variant, c.2523_2528del, results in the deletion of 2 amino acid(s) of the MBD5 protein (p.Ser842_Gly843del), 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 MBD5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1327906). 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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