ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.2268T>C (p.Thr756=) (rs374841430)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649378 SCV000771205 likely benign Hereditary sensory neuropathy type IE 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,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.

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