Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000649378 | SCV000771205 | likely benign | Hereditary sensory neuropathy-deafness-dementia syndrome | 2023-12-14 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000757175 | SCV000885311 | likely benign | not provided | 2018-01-11 | criteria provided, single submitter | clinical testing | The p.Thr756Thr variant (rs374841430) does not alter the amino acid sequence of the DNMT1 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with hearing loss in medical literature or in gene specific variation databases. This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency of 0.02 percent in the East Asian population (identified on 4 out of18, 870 chromosomes). Based on these observations, the p.Thr756Thr variant is likely to be benign. |