ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.1053A>G (p.Lys351=)

gnomAD frequency: 0.00009  dbSNP: rs139355567
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703639 SCV000520133 likely benign not provided 2020-12-03 criteria provided, single submitter clinical testing
Invitae RCV000649376 SCV000771203 likely benign Hereditary sensory neuropathy-deafness-dementia syndrome 2023-12-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003932592 SCV004751176 likely benign DNMT1-related condition 2019-07-09 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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