ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1994-2A>C (rs1440841207)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658277 SCV000780048 uncertain significance not provided 2018-05-17 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ELN gene. The c.1994-2 A>C variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). The c.1994-2 A>C variant is predicted to destroy the canonical splice acceptor site in intron 29 and may lead to abnormal gene splicing. This variant is predicted to lead to either an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Other splice site variants in the ELN gene have been reported in HGMD in association with ELN-related disorders (Stenson et al., 2014). However, in the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

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