ClinVar Miner

Submissions for variant NM_022336.4(EDAR):c.903C>A (p.Cys301Ter)

gnomAD frequency: 0.00002  dbSNP: rs199544410
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521198 SCV000616705 pathogenic not provided 2022-03-04 criteria provided, single submitter clinical testing Identified in the heterozygous state in a patient with hypodontia and a family history of hypodontia, and present in the reportedly asymptomatic father, in published literature (Ferrer et al., 2019); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31427378, 33144682)
Labcorp Genetics (formerly Invitae), Labcorp RCV002231202 SCV000637970 pathogenic Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome 2025-01-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys301*) in the EDAR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EDAR are known to be pathogenic (PMID: 10431241, 10431242, 20979233, 28981473). This variant is present in population databases (rs199544410, gnomAD 0.003%). 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: 449014). For these reasons, this variant has been classified as Pathogenic.

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