Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000006217 | SCV000914857 | likely pathogenic | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | 2017-04-28 | criteria provided, single submitter | clinical testing | The EDAR c.719_722delAAGA (p.Lys240ArgfsTer7) variant has been reported in two studies and is found in a homozygous state in four patients from two consanguineous families with hypohidrotic ectodermal dysplasia (Naeem et al. 2005; Bashyam et al. 2012). Three of these patients were from the same family (Naeem et al. 2005). The p.Lys240ArgfsTer7 variant was also present in five unaffected heterozygous carriers, two from one family and three from the other including both parents and one sister. Control data are unavailable for this variant and it is not found in the 1000 Genomes Project, the Exome Sequencing Project, or the Exome Aggregation Consortium. The p.Lys240ArgfsTer7 variant has not been reported in association with autosomal dominant HED. Based on the evidence and due to the potential impact of frameshift variants, the p.Lys240ArgfsTer7 variant is classified as likely pathogenic for autosomal recessive hypohidrotic ectodermal dysplasia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. |
| 3billion | RCV000006217 | SCV002059115 | pathogenic | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | 2022-01-03 | criteria provided, single submitter | clinical testing | Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). The variant has been reported at least twice as pathogenic/likely pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000005859, PMID:16029325).It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000004, PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
| OMIM | RCV000006217 | SCV000026399 | pathogenic | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | 2005-07-01 | no assertion criteria provided | literature only |