ClinVar Miner

Submissions for variant NM_022336.4(EDAR):c.1061AGA[1] (p.Lys355del)

dbSNP: rs1574362124
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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 RCV002234987 SCV000945277 uncertain significance Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome 2019-03-25 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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. This variant has not been reported in the literature in individuals with EDAR-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.1064_1066delAGA, results in the deletion of 1 amino acid(s) of the EDAR protein (p.Lys355del), but otherwise preserves the integrity of the reading frame.

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