Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000588759 | SCV000698212 | likely pathogenic | Familial dysautonomia | 2017-03-27 | criteria provided, single submitter | clinical testing | Variant summary: The IKBKAP c.3643dupG (p.Asp1215Glyfs) variant results in a premature termination codon, predicted to cause a truncated or absent IKBKAP protein due to nonsense mediated decay, which are commonly known mechanisms for disease. One in silico tool predicts a damaging outcome for this variant. This variant was found in 1/121412 control chromosomes at a frequency of 0.0000082, which does not exceed the estimated maximal expected allele frequency of a pathogenic IKBKAP variant (0.001838). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely pathogenic. |
Invitae | RCV001224978 | SCV001397210 | pathogenic | not provided | 2023-03-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 496211). This variant has not been reported in the literature in individuals affected with ELP1-related conditions. This variant is present in population databases (rs781333644, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Asp1215Glyfs*10) in the ELP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ELP1 are known to be pathogenic (PMID: 18303054, 24173031). |
Counsyl | RCV000588759 | SCV001132232 | likely pathogenic | Familial dysautonomia | 2016-12-21 | no assertion criteria provided | clinical testing |