ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.944G>C (p.Gly315Ala)

dbSNP: rs867548960
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002257013 SCV002529245 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-26 criteria provided, single submitter curation
Ambry Genetics RCV002257013 SCV004098104 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-15 criteria provided, single submitter clinical testing The p.G315A variant (also known as c.944G>C), located in coding exon 7 of the BRIP1 gene, results from a G to C substitution at nucleotide position 944. The glycine at codon 315 is replaced by alanine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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