ClinVar Miner

Submissions for variant NM_001378457.1(DMXL2):c.1845_1853dup (p.Ile617_Asp618insGluHisIle)

dbSNP: rs1469022960
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001768728 SCV001992597 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In-frame insertion of 3 amino acids in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015)
Labcorp Genetics (formerly Invitae), Labcorp RCV001768728 SCV003475306 uncertain significance not provided 2022-06-05 criteria provided, single submitter clinical testing This variant, c.1845_1853dup, results in the insertion of 3 amino acid(s) of the DMXL2 protein (p.Ile617_Asp618insGluHisIle), 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 DMXL2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1305521). 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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