ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5246C>G (p.Pro1749Arg) (rs80357462)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212197 SCV000210209 pathogenic not provided 2014-01-02 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA1 c.5246C>G at the cDNA level and p.Pro1749Arg (P1749R) at the protein level, and results in the change of a Proline to an Arginine (CCA>CGA). BRCA1 Pro1749Arg was observed in one patient with ovarian cancer and has been shown to disrupt the stability and proper protein folding of the BRCA1 protein (Gayther 1996, Williams 2003, Lee 2010). BRCA1 Pro1749Arg was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. This variant is a non-conservative amino acid substitution in which a neutral non-polar residue is replaced with a positive polar one, altering a position that is well conserved throughout evolution but not in a known functional domain. Based on the current evidence, we consider this variant to be pathogenic.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112578 SCV000145410 uncertain significance Breast-ovarian cancer, familial 1 1999-04-06 no assertion criteria provided clinical testing

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