ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3596C>T (p.Ala1199Val) (rs587782458)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131543 SCV000186542 likely benign Hereditary cancer-predisposing syndrome 2017-05-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),No disease association in small case-control study,Structural Evidence
GeneDx RCV000236315 SCV000293775 uncertain significance not provided 2018-11-06 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.3596C>T at the cDNA level, p.Ala1199Val (A1199V) at the protein level, and results in the change of an Alanine to a Valine (GCT>GTT). Using alternate nomenclature, this variant has been previously published as BRCA1 3715C>T. This variant has been identified in at least one breast cancer case, but has also been detected in unaffected individuals (Suter 2004, Carney 2010). BRCA1 Ala1199Val was observed at an allele frequency of 0.1% (19/18,798) in individuals of East Asian ancestry in large population cohorts (Lek 2016). Since Alanine and Valine share similar properties, this is considered a conservative amino acid substitution. BRCA1 Ala1199Val is not located in a known functional domain. In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether BRCA1 Ala1199Val is pathogenic or benign. We consider it to be a variant of uncertain significance.
Integrated Genetics/Laboratory Corporation of America RCV000416536 SCV000494379 uncertain significance Hereditary breast and ovarian cancer syndrome 2014-09-11 criteria provided, single submitter clinical testing
Invitae RCV000236315 SCV000549310 likely benign not provided 2019-01-15 criteria provided, single submitter clinical testing
Color RCV000131543 SCV000911050 likely benign Hereditary cancer-predisposing syndrome 2017-01-13 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000236315 SCV001133559 likely benign not provided 2018-09-18 criteria provided, single submitter clinical testing

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