ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.4493G>T (p.Gly1498Val)

gnomAD frequency: 0.00006  dbSNP: rs746932608
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001205623 SCV001376890 likely benign Hereditary sensory neuropathy-deafness-dementia syndrome 2023-09-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002327470 SCV002633200 uncertain significance Inborn genetic diseases 2020-02-04 criteria provided, single submitter clinical testing The p.G1482V variant (also known as c.4445G>T), located in coding exon 37 of the DNMT1 gene, results from a G to T substitution at nucleotide position 4445. The glycine at codon 1482 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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