ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.229G>A (p.Gly77Ser)

dbSNP: rs746687493
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692609 SCV000820440 likely benign Hereditary sensory neuropathy-deafness-dementia syndrome 2023-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002442450 SCV002733981 uncertain significance Inborn genetic diseases 2020-01-29 criteria provided, single submitter clinical testing The p.G77S variant (also known as c.229G>A), located in coding exon 4 of the DNMT1 gene, results from a G to A substitution at nucleotide position 229. The glycine at codon 77 is replaced by serine, an amino acid with similar 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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