ClinVar Miner

Submissions for variant NM_001005360.2(DNM2):c.142C>T (p.Leu48=) (rs753989925)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578531 SCV000681185 uncertain significance not provided 2017-12-06 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the DNM2 gene. The c.142 C>T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). This substitution occurs at a position that is conserved across species. However, several in-silico splice prediction models predict the c.142 C>T variant does not affect splicing. In the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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