ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1292_1295del (p.Leu431fs)

dbSNP: rs1555591984
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneKor MSA RCV000585669 SCV000693508 pathogenic not provided 2020-01-01 criteria provided, single submitter clinical testing This sequence change deletes four nucleotides in exon 10 of BRCA1 mRNA (c.1292_1295delTACT), causing a frameshift at codon 431 and the creation of a premature translation stop signal 9 amino acid residues later. This is expected to result in an absent or disrupted protein product. Truncating variants in BRCA1 are known to be pathogenic. The mutation database ClinVar contains entries for this variant (Variation ID: 495089).
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000585669 SCV002009471 pathogenic not provided 2021-11-03 criteria provided, single submitter clinical testing

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