ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.184C>T (p.Pro62Ser)

dbSNP: rs2054779515
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004950277 SCV005549976 uncertain significance Hereditary cancer-predisposing syndrome 2024-12-04 criteria provided, single submitter clinical testing The p.P62S variant (also known as c.184C>T), located in coding exon 3 of the BRCA1 gene, results from a C to T substitution at nucleotide position 184. The proline at codon 62 is replaced by serine, an amino acid with similar properties. One functional study found that this nucleotide substitution is functional in a high throughput genome editing haploid cell survival assay (Findlay GM et al. Nature, 2018 Oct;562:217-222). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Brotman Baty Institute, University of Washington RCV001077124 SCV001243000 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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