Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000986202 | SCV001135126 | uncertain significance | not provided | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001312272 | SCV001502717 | uncertain significance | Hereditary sensory neuropathy-deafness-dementia syndrome | 2022-06-03 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 801417). This variant has not been reported in the literature in individuals affected with DNMT1-related conditions. This variant is present in population databases (no rsID available, gnomAD no frequency). This variant, c.3458_3466dup, results in the insertion of 3 amino acid(s) of the DNMT1 protein (p.Pro1153_Leu1155dup), but otherwise preserves the integrity of the reading frame. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |