ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.1326A>G (p.Lys442=) (rs28897765)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145288 SCV000192365 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365738 SCV000441453 benign Seckel syndrome 1 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.
Integrated Genetics/Laboratory Corporation of America RCV000588029 SCV000697771 benign not provided 2016-04-27 criteria provided, single submitter clinical testing Variant summary: The c.1326A>G variant affects a non-conserved nucleotide, resulting in a synonymous mutation. Mutation taster predicts benign outcome for this variant along with 4/5 in silico tools via Alamut predicting the variant not to have an impact on normal splicing. This variant is found in 2299/121410 control chromosomes (48 homozygotes) at a frequency of 0.0189358, which is about 30297 times of the maximal expected frequency of a pathogenic allele (0.0000006), suggesting this variant is benign. In addition, a clinical laboratory classifies this variant as benign (without evidence to independently evaluate). Taken together, this variant was classified as Benign.

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