ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.573G>C (p.Leu191=)

gnomAD frequency: 0.00001  dbSNP: rs786201267
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163198 SCV000213720 likely benign Hereditary cancer-predisposing syndrome 2014-12-30 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.
Counsyl RCV000410420 SCV000488442 likely benign Familial cancer of breast 2016-03-29 criteria provided, single submitter clinical testing
GeneDx RCV001721039 SCV000521369 likely benign not provided 2019-11-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163198 SCV000684662 likely benign Hereditary cancer-predisposing syndrome 2015-04-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000410420 SCV000757412 likely benign Familial cancer of breast 2025-01-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV004556754 SCV001308840 uncertain significance CHEK2-related cancer predisposition 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001721039 SCV002046579 likely benign not provided 2021-01-14 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000163198 SCV002537617 likely benign Hereditary cancer-predisposing syndrome 2020-05-13 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV000410420 SCV004020150 benign Familial cancer of breast 2023-03-08 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004767100 SCV005380649 likely benign not specified 2024-08-12 criteria provided, single submitter clinical testing

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