ClinVar Miner

Submissions for variant NM_022336.4(EDAR):c.442T>C (p.Cys148Arg)

dbSNP: rs1181378221
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV001293769 SCV001482419 likely pathogenic Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive 2021-03-03 criteria provided, single submitter clinical testing The mutationCys148Arg was already described by Cahssaing et al. 2006 and is absent from large population studies. The mutation was found in a homozygous state in a patient with highly specific symptoms for the disease. Using ACMG criteria PM2, PP2, PP3 and PP5 we classified this variant as likely pathogenic.
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center RCV001293769 SCV004031064 likely pathogenic Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive 2023-08-31 criteria provided, single submitter clinical testing

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