ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.1896G>A (p.Thr632=)

gnomAD frequency: 0.00016  dbSNP: rs202058239
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697843 SCV000525882 benign not provided 2020-01-10 criteria provided, single submitter clinical testing
Invitae RCV000649368 SCV000771195 likely benign Hereditary sensory neuropathy-deafness-dementia syndrome 2024-01-20 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000649368 SCV001283280 benign Hereditary sensory neuropathy-deafness-dementia syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
CeGaT Center for Human Genetics Tuebingen RCV001697843 SCV004033634 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing DNMT1: BP4, BP7

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