ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5137G>A (p.Val1713Ile) (rs1064793309)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484213 SCV000565729 uncertain significance not provided 2017-12-20 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.5137G>A at the cDNA level, p.Val1713Ile (V1713I) at the protein level, and results in the change of a Valine to an Isoleucine (GTA>ATA). Using alternate nomenclature, this variant would be defined as BRCA1 5256G>A. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA1 Val1713Ile was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Valine and Isoleucine share similar properties, this is considered a conservative amino acid substitution. BRCA1 Val1713Ile occurs at a position where amino acids with properties similar to Valine are tolerated across species and is located within the BRCT1 domain and a region of interaction with multiple proteins (Paul 2014, UniProt). In silico analyses are inconsistent regarding the effect this variant may have on protein structure or function. Based on currently available evidence, it is unclear whether BRCA1 Val1713Ile is pathogenic or benign. We consider it to be a variant of uncertain significance.

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