Total submissions: 16
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000254727 | SCV000321383 | pathogenic | not provided | 2017-05-05 | criteria provided, single submitter | clinical testing | The V144M variant in the ADAT3 gene has been reported previously in the homozygous state as V128M, due to the use of alternative nomenclature, in several individuals with intellectual disability from unrelated, consanguineous families (Alazami et al., 2013; El-Hattab et al., 2016; Shaheen et al., 2016). Although adequate data is not available in large population cohorts to assess the frequency of this variant in publicly available databases, this variant is considered a Saudi Arabian founder mutation (Alazami et al., 2013; El-Hattab et al., 2016; Shaheen et al., 2016). The V144M variant is a conservative amino acid substitution which occurs at a position where amino acids with similar properties to Valine are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret V144M as a pathogenic variant. |
Broad Center for Mendelian Genomics, |
RCV000162122 | SCV000786718 | pathogenic | Intellectual disability-strabismus syndrome | criteria provided, single submitter | research | The homozgous p.Val144Met variant was identified by our study in one individual with mental retardation. Of note, a first cousin who was noted to also have mental retardation was a carrier for this variant. The p.Val144Met variant is believed to be pathogenic based on numberous reports by other laboratories in the literature and databases. | |
Pathology and Clinical Laboratory Medicine, |
RCV000162122 | SCV000996290 | pathogenic | Intellectual disability-strabismus syndrome | criteria provided, single submitter | clinical testing | ||
Centogene AG - |
RCV000162122 | SCV001426529 | pathogenic | Intellectual disability-strabismus syndrome | criteria provided, single submitter | clinical testing | ||
Baylor Genetics | RCV000162122 | SCV001521996 | pathogenic | Intellectual disability-strabismus syndrome | 2020-06-03 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Department of Biochemistry, |
RCV000162122 | SCV001547514 | pathogenic | Intellectual disability-strabismus syndrome | 2021-03-25 | criteria provided, single submitter | research | We detected the variant NM_138422.3(ADAT3): c.430G>A (p.Val144Met, rs730882213) in two female siblings with Mental retardation, autosomal recessive 36 using whole-exome sequencing. We validated the variant's status in the patients using Sanger sequencing and detected it in a heterozygous status in their parents. Multiple reports previously classified the variant NM_138422.3(ADAT3): c.430G>A (p.Val144Met, rs730882213) as pathogenic (Alazami et al., 2013; El-Hattab et al., 2016). |
Revvity Omics, |
RCV000162122 | SCV002022276 | pathogenic | Intellectual disability-strabismus syndrome | 2022-07-06 | criteria provided, single submitter | clinical testing | |
Hadassah Hebrew University Medical Center | RCV000162122 | SCV004099517 | likely pathogenic | Intellectual disability-strabismus syndrome | criteria provided, single submitter | clinical testing | ||
Institute of Human Genetics, |
RCV000162122 | SCV004171164 | pathogenic | Intellectual disability-strabismus syndrome | criteria provided, single submitter | not provided | ||
Center for Genomic Medicine, |
RCV000162122 | SCV004804796 | likely pathogenic | Intellectual disability-strabismus syndrome | 2024-03-17 | criteria provided, single submitter | research | |
OMIM | RCV000162122 | SCV000082799 | pathogenic | Intellectual disability-strabismus syndrome | 2013-07-01 | no assertion criteria provided | literature only | |
Department Of Translational Genomics |
RCV000162122 | SCV000196407 | likely pathogenic | Intellectual disability-strabismus syndrome | 2014-12-01 | no assertion criteria provided | research | |
Biochemical Molecular Genetic Laboratory, |
RCV000162122 | SCV001132975 | pathogenic | Intellectual disability-strabismus syndrome | 2019-08-25 | no assertion criteria provided | clinical testing | |
Section for Clinical Neurogenetics, |
RCV000162122 | SCV001156076 | pathogenic | Intellectual disability-strabismus syndrome | 2019-08-01 | no assertion criteria provided | research | |
Genome Diagnostics Laboratory, |
RCV000254727 | SCV001977665 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000254727 | SCV001979423 | likely pathogenic | not provided | no assertion criteria provided | clinical testing |