ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.1776T>A (p.Gly592=) (rs2227930)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145291 SCV000192368 likely benign not specified 2013-04-25 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000145291 SCV000202209 benign not specified 2013-12-20 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000306424 SCV000441452 benign Seckel syndrome 1 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000145291 SCV000538378 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Integrated Genetics/Laboratory Corporation of America RCV000587232 SCV000697779 benign not provided 2016-04-27 criteria provided, single submitter clinical testing Variant summary: The c.1776T>A variant involves the alteration of a non-conserved nucleotide resulting in a synonymous change. 4/4 in silico tools via Alamut predict the variant to eliminate a cryptic splice donor site, thereby potential resulting in a protective effect on normal splicing. The variant was observed in the large, broad control population, ExAC, with an allele frequency of 55% which includes 19,239 homozygous occurrences. Therefore this synonymous variant is the major allele and has been classified as Benign.

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