ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.575C>T (p.Ala192Val) (rs62621089)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000757174 SCV000293761 likely benign not provided 2021-06-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001086953 SCV000410259 benign Hereditary sensory neuropathy type IE 2018-01-12 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000757174 SCV000885309 uncertain significance not provided 2018-05-07 criteria provided, single submitter clinical testing The DNMT1 c.575C>T; p.Ala192Val variant (rs62621089, ClinVar variant ID 246280), to our knowledge, is not reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the genome Aggregation Database (gnomAD) with a South Asian population frequency of 0.2% (identified on 67 out of 30,782 chromosomes). The alanine at position 192 is weakly conserved, considering 12 species, and computational analyses of the effects of the p.Ala192Val variant on protein structure and function make conflicting predictions (SIFT: damaging, PolyPhen-2: benign). Based on the available information, the clinical significance of the p.Ala192Val variant cannot be determined with certainty.
Invitae RCV001086953 SCV001020732 likely benign Hereditary sensory neuropathy type IE 2020-09-08 criteria provided, single submitter clinical testing

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