ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.1224C>T (p.Asn408=)

gnomAD frequency: 0.00035  dbSNP: rs199584370
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000875535 SCV000410245 benign Hereditary sensory neuropathy-deafness-dementia syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000875535 SCV001017977 benign Hereditary sensory neuropathy-deafness-dementia syndrome 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001563516 SCV001786475 likely benign not provided 2020-08-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502263 SCV002809429 likely benign Autosomal dominant cerebellar ataxia, deafness and narcolepsy; Hereditary sensory neuropathy-deafness-dementia syndrome 2021-10-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001563516 SCV002822500 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing DNMT1: BP4, BP7
Clinical Genetics, Academic Medical Center RCV001563516 SCV001919641 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001563516 SCV001967175 likely benign not provided no assertion criteria provided clinical testing

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