ClinVar Miner

Submissions for variant NM_017613.4(DONSON):c.70A>G (p.Lys24Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004821437 SCV005442656 uncertain significance Microcephaly, short stature, and limb abnormalities criteria provided, single submitter clinical testing The observed missense variant c.70A>Gp.Lys24Glu in the DONSON gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in the gnomAD Exomes. The amino acid Lys at position 24 is changed to a Glu changing protein sequence and it might alter its composition and physico-chemical properties. Computational evidence MutationTaster - Disease causing predict a damaging effect on protein structure and function for this variant. The residue is conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance. The same variant in DONSON gene has been detected in spouse.

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