ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4895T>G (p.Val1632Gly)

dbSNP: rs1397965282
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000776974 SCV000912647 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000776974 SCV001185056 likely benign Hereditary cancer-predisposing syndrome 2021-06-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV001036972 SCV001200363 uncertain significance Hereditary breast ovarian cancer syndrome 2022-04-07 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 1632 of the BRCA1 protein (p.Val1632Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with breast cancer (PMID: 30254663). ClinVar contains an entry for this variant (Variation ID: 630951). Advanced modeling of experimental studies (such as gene expression, population dynamics, functional pathways, and cell-cycle effects in cell culture) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. Experimental studies have shown that this missense change does not substantially affect BRCA1 function (PMID: 30209399). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
All of Us Research Program, National Institutes of Health RCV001072804 SCV004817614 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2023-11-30 criteria provided, single submitter clinical testing
Brotman Baty Institute, University of Washington RCV001072804 SCV001238251 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro
Department of Medical and Surgical Sciences, University of Bologna RCV001072804 SCV004228362 benign Breast-ovarian cancer, familial, susceptibility to, 1 2023-09-01 no assertion criteria provided clinical testing PM2(Supporting)+BS3(Strong)+BP1(Strong) according to ACMG/AMP classification guidelines specified for BRCA1 & BRCA2 (Classification Criteria V1.0.0 2023-09-08 - https://cspec.genome.network/cspec/ui/svi/affiliation/50087) (PMID: 38160042)

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