Submissions for variant NM_007294.4(BRCA1):c.185C>T (p.Pro62Leu)

dbSNP: rs786202286

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001223219	SCV001395358	uncertain significance	Hereditary breast ovarian cancer syndrome	2023-12-13	criteria provided, single submitter	clinical testing	This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 62 of the BRCA1 protein (p.Pro62Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with hereditary breast and/or ovarian cancer (PMID: 18092194). This variant is also known as 304C>T. ClinVar contains an entry for this variant (Variation ID: 865233). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 30209399) indicates that this missense variant is not expected to disrupt BRCA1 function with a negative predictive value of 95%. 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.
CeGaT Center for Human Genetics Tuebingen	RCV003311941	SCV004009802	uncertain significance	not provided	2023-05-01	criteria provided, single submitter	clinical testing	BRCA1: PM1, PM2, BP1, BS3:Supporting
Brotman Baty Institute, University of Washington	RCV001072615	SCV001238030	not provided	Breast-ovarian cancer, familial, susceptibility to, 1		no assertion provided	in vitro