ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3855+2T>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004587996 SCV005075860 likely pathogenic Familial dysautonomia 2024-04-02 criteria provided, single submitter clinical testing Variant summary: ELP1 c.3855+2T>A is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes a 5' splicing donor site. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 31408 control chromosomes. To our knowledge, no occurrence of c.3855+2T>A in individuals affected with Familial Dysautonomia and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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