ClinVar Miner

Submissions for variant NM_022336.4(EDAR):c.656-1G>A

dbSNP: rs1558802058
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000778557 SCV000914858 uncertain significance Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant 2017-05-03 criteria provided, single submitter clinical testing The EDAR c.656-1G>A variant occurs in a canonical splice site (acceptor) and is therefore predicted to disrupt or distort the normal gene product. A literature search was performed for the gene and cDNA change. No publications were found based on this search. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of splice acceptor variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for autosomal dominant hypohidrotic ectodermal dysplasia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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