ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1873T>C (p.Ser625Pro) (rs935011040)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000758992 SCV000566988 uncertain significance not provided 2015-06-25 criteria provided, single submitter clinical testing This variant is denoted BRIP1 c.1873T>C at the cDNA level, p.Ser625Pro (S625P) at the protein level, and results in the change of a Serine to a Proline (TCA>CCA). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRIP1 Ser625Pro was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Serine and Proline differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRIP1 Ser625Pro occurs at a position that is conserved across species and is located in the helicase domain (Cantor 2011). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available information, it is unclear whether BRIP1 Ser625Pro is pathogenic or benign. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000568571 SCV000666238 uncertain significance Hereditary cancer-predisposing syndrome 2016-08-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Color RCV000568571 SCV000684164 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758992 SCV000887987 uncertain significance not provided 2018-04-11 criteria provided, single submitter clinical testing

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