ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.301C>T (p.Arg101Trp)

gnomAD frequency: 0.00014  dbSNP: rs369196079
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000700835 SCV000829608 likely benign Hereditary sensory neuropathy-deafness-dementia syndrome 2024-11-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001531881 SCV001747197 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing DNMT1: BP4, BS1
Genetic Services Laboratory, University of Chicago RCV001815008 SCV002061946 uncertain significance not specified 2021-11-23 criteria provided, single submitter clinical testing This sequence change does not appear to have been previously described in individuals with DNMT1-related disorders. This sequence change has been described in the gnomAD database with a frequency of 0.036% in the African/African American subgroup (dbSNP rs369196079). The p.Arg101Trp change affects a poorly conserved amino acid residue located in a domain of the DNMT1 protein that is known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Arg101Trp substitution. Due to insufficient evidence and the lack of functional studies, the clinical significance of the p.Arg101Trp change remains unknown at this time.
Ambry Genetics RCV002440510 SCV002753065 likely benign Inborn genetic diseases 2021-06-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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