ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.-59_-56+15del (rs993537831)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670186 SCV000795014 uncertain significance Familial dysautonomia 2017-10-24 criteria provided, single submitter clinical testing
GeneDx RCV000598826 SCV000710202 uncertain significance not provided 2017-12-19 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the IKBKAP gene. The c.-59_-56+15del19variant 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 at a significant frequency in large population cohorts (Lek et al., 2016). The c.-59_-56+15del19 variant does not alter the Kozak sequence, but is expected to lose a natural splice donor site for the non-coding exon 1 in the 5' UTR. However, in the absence of RNA/functional studies, the actual effect of the c.-59_-56+15del19 variant in this individual is uncertain. Additionally, no regulatory variants have been reported in the IKBKAP gene in association with IKBKAP-related disorders (Stenson et al., 2014). 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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