Submissions for variant NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln)

gnomAD frequency: 0.00251  dbSNP: rs142647321

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000203118	SCV000229860	benign	not specified	2016-04-22	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000203118	SCV000257799	benign	not specified	2015-04-17	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000755251	SCV000410213	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.
GeneDx	RCV001573463	SCV000512839	benign	not provided	2019-06-04	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001573463	SCV000603384	benign	not provided	2020-05-06	criteria provided, single submitter	clinical testing
Invitae	RCV000755251	SCV000651313	likely benign	Hereditary sensory neuropathy-deafness-dementia syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002326974	SCV002629063	likely benign	Inborn genetic diseases	2020-01-18	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
CeGaT Center for Human Genetics Tuebingen	RCV001573463	SCV004146637	benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	DNMT1: PP2, BP4, BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573463	SCV001799374	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001573463	SCV001924860	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001573463	SCV001927885	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573463	SCV001966391	likely benign	not provided		no assertion criteria provided	clinical testing