ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.616G>A (p.Asp206Asn)

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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 RCV004764351 SCV005373648 uncertain significance Autosomal dominant cerebellar ataxia, deafness and narcolepsy 2023-05-20 criteria provided, single submitter clinical testing The observed missense c.616G>A(p.Asp206Asn) variant in DNMT1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency of 0.0004% in the gnomAD Exomes. The amino acid Asp at position 206 is changed to a Asn changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Asp206Asn in DNMT1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. Computational evidence (Polyphen - Benign, SIFT - Tolerated, and MutationTaster - Polymorphism) predicts conflicting evidence on protein structure and function for this variant. For these reasons, this variant has been classified as Uncertain Significance.

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