ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4094T>G (p.Leu1365Ter) (rs398122681)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000077140 SCV000300070 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077140 SCV000325844 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneKor MSA RCV000585646 SCV000693530 pathogenic not provided 2020-01-01 criteria provided, single submitter clinical testing This variant is a single amino acid change from Leucine to a termination codon at amino acid residue 1365 of the BRCA1 gene. It is expected to result in a truncated, non-functional protein. The mutation database ClinVar contains entries for this variant (Variation ID: 91623). Truncating variants in the BRCA1 gene are known to be pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000077140 SCV000108937 pathogenic Breast-ovarian cancer, familial 1 2012-05-09 no assertion criteria provided clinical testing

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