ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1786C>T (p.Leu596Phe) (rs80357371)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159958 SCV000210111 uncertain significance not provided 2014-07-09 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.1786C>T at the cDNA level, p.Leu596Phe (L596F) at the protein level, and results in the change of a Leucine to a Phenylalanine (CTC>TTC). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA1 Leu596Phe was not observed at a significant allele frequency in 1000 Genomes and was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. Since Leucine and Phenylalanine share similar properties, this is considered a conservative amino acid substitution. BRCA1 Leu596Phe occurs at a position that is moderately conserved across species and is not located in a known functional domain. In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available information, it is unclear whether BRCA1 Leu596Phe is pathogenic or benign. We consider it to be a variant of uncertain significance.
Color RCV000775174 SCV000909364 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-09 criteria provided, single submitter clinical testing

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