ClinVar Miner

Submissions for variant NM_022336.4(EDAR):c.1024+1G>A

dbSNP: rs1553444895
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002231724 SCV000637958 pathogenic Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome 2023-07-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change affects a donor splice site in intron 11 of the EDAR gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with EDAR-related conditions. ClinVar contains an entry for this variant (Variation ID: 463874). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant disrupts a region of the EDAR protein in which other variant(s) (p.Phe398*) have been determined to be pathogenic (PMID: 23401279, 24641098). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing.

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