ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.2303dup (p.Pro769fs)

dbSNP: rs2116891594
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001369283 SCV001565717 uncertain significance CHARGE association 2020-02-11 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with SEMA3E-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a frameshift in the SEMA3E gene (p.Pro769Alafs*11). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 7 amino acids of the SEMA3E protein and extend the protein by an additional 4 amino acids.

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