ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.3311C>T (p.Ala1104Val)

dbSNP: rs2089593597
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris RCV001647187 SCV001519290 likely pathogenic Spastic ataxia 2021-07-12 criteria provided, single submitter research
Neuberg Centre For Genomic Medicine, NCGM RCV003448393 SCV004176405 uncertain significance Autosomal dominant cerebellar ataxia, deafness and narcolepsy 2023-03-01 criteria provided, single submitter clinical testing The missense variant c.3311C>T(p.Ala1104Val) in DNMT1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has been reported to the ClinVar database as Likely Pathogenic. However, no details are available for independent assessment. The amino acid Alanine at position 1104 is changed to a Valine changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Ala1104Val in DNMT1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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