ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.731G>A (p.Gly244Glu)

gnomAD frequency: 0.00066  dbSNP: rs150999369
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705233 SCV000278968 benign not provided 2018-06-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000546317 SCV000410257 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 RCV000546317 SCV000651322 likely benign Hereditary sensory neuropathy-deafness-dementia syndrome 2024-01-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000222882 SCV001158712 benign not specified 2018-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365164 SCV002666654 likely benign Inborn genetic diseases 2019-09-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002494602 SCV002801052 likely benign Autosomal dominant cerebellar ataxia, deafness and narcolepsy; Hereditary sensory neuropathy-deafness-dementia syndrome 2021-12-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001705233 SCV004139492 benign not provided 2022-05-01 criteria provided, single submitter clinical testing DNMT1: BS1, BS2

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