ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.65T>A (p.Leu22Ter)

dbSNP: rs80357438
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Total submissions: 3
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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) RCV000660988 SCV000783228 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneKor MSA RCV000239088 SCV000296759 pathogenic Ovarian cancer 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 22 of the BRCA1 gene. It results in a truncated non-functional protein. Truncating variants in the BRCA1 gene are known to be pathogenic. The mutation database ClinVar contains entries for this variant (Variation ID: 252428).
Brotman Baty Institute, University of Washington RCV000660988 SCV001242256 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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