Submissions for variant NM_007294.4(BRCA1):c.3560G>C (p.Ser1187Thr)

dbSNP: rs80356975

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000758813	SCV000887669	uncertain significance	not provided	2018-05-13	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001184369	SCV001350331	uncertain significance	Hereditary cancer-predisposing syndrome	2022-06-27	criteria provided, single submitter	clinical testing	This missense variant replaces serine with threonine at codon 1187 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
University of Washington Department of Laboratory Medicine, University of Washington	RCV001184369	SCV003850160	likely benign	Hereditary cancer-predisposing syndrome	2023-03-23	criteria provided, single submitter	curation	Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).