ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.1149T>C (p.Tyr383=)

gnomAD frequency: 0.00002  dbSNP: rs766807027
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001127420 SCV001286730 likely 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen RCV001311157 SCV001501224 likely benign not provided 2020-11-01 criteria provided, single submitter clinical testing
Invitae RCV001127420 SCV003452740 likely benign Hereditary sensory neuropathy-deafness-dementia syndrome 2023-11-24 criteria provided, single submitter clinical testing

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