ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.379del (p.Ser127fs)

dbSNP: rs1555596373
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589238 SCV000699057 likely pathogenic Hereditary breast ovarian cancer syndrome 2016-11-11 criteria provided, single submitter clinical testing Variant summary: The c.379delA (p.Ser127Valfs) variant in BRCA1 gene is a frameshift change that is predicted to cause loss of normal protein function through protein truncation or nonsense-mediated mRNA decay. The variant is absent from the large control population dataset of ExAC .The variant of interest has been reported in at least one affected individual from published report (Alsop, 2012), but has not been cited any reputable databases/clinical laboratories. Taking together, the variant was classified as Likely Pathogenic.

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