ClinVar Miner

Submissions for variant NM_183356.3(ASNS):c.1165G>C (p.Glu389Gln) (rs948326794)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pfaffle Lab, University Hospital for Children and Adolescents,University of Leipzig RCV000656456 SCV000778370 likely pathogenic Asparagine synthetase deficiency 2018-03-31 no assertion criteria provided clinical testing The c.1165G>C variant was observed in a compound heterozygote mode of inheritance together with the variant c.601delA in ASNS in 1 German family with microcephaly. The variants segregated in the family and were absent from large population studies and controls. The parents and the son were healthy, two daughters were affected with microcephaly.

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