ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1890del (p.Phe631fs)

dbSNP: rs1555602154
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000581967 SCV000689291 pathogenic Hereditary cancer-predisposing syndrome 2023-06-20 criteria provided, single submitter clinical testing This variant deletes 1 nucleotide in exon 13 of the BRIP1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with BRIP1-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRIP1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

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