ClinVar Miner

Submissions for variant NM_001606.5(ABCA2):c.4903del (p.Val1635fs)

dbSNP: rs1588511352
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sadaf Naz Human Genetics Laboratory, University of the Punjab 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

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