Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Sadaf Naz Human Genetics Laboratory, |
RCV000790425 | SCV000925748 | pathogenic | Ataxia with Dysarthria | 2018-09-01 | criteria provided, single submitter | research | The Val1665TyrfsTer36 variant in ABCA2 has been reported in a consanguineous Pakistani family linked with ataxia and dysarthria and had autosomal recessive inheritance. This variant segregated in the family with the disorder and was absent from 100 samples of ethnically matched control population. ABCA2 variant disrupts lipid transport in the body. Hence, the Val1665TyrfsTer36 variant meets our criteria to be classified as pathogenic. |
OMIM | RCV001027881 | SCV001190604 | uncertain significance | not provided | 2020-03-27 | no assertion criteria provided | literature only |