ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1907G>A (p.Cys636Tyr) (rs398122649)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162827 SCV000213311 likely benign Hereditary cancer-predisposing syndrome 2018-04-19 criteria provided, single submitter clinical testing Co-occurence with mutation in same gene (phase unknown);In silico models in agreement (benign)
CSER _CC_NCGL, University of Washington RCV000210899 SCV000264593 uncertain significance Hereditary breast and ovarian cancer syndrome 2015-11-01 criteria provided, single submitter research
GeneDx RCV001703981 SCV000517365 likely benign not provided 2020-09-16 criteria provided, single submitter clinical testing
Invitae RCV000210899 SCV000635818 uncertain significance Hereditary breast and ovarian cancer syndrome 2020-03-29 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 636 of the BRCA1 protein (p.Cys636Tyr). The cysteine residue is weakly conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA1-related disease. ClinVar contains an entry for this variant (Variation ID: 91570). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: Tolerated; PolyPhen-2: Benign; Align-GVGD: Class C0. The tyrosine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Color Health, Inc RCV000162827 SCV000909360 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-16 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077087 SCV000108884 uncertain significance Breast-ovarian cancer, familial 1 2011-10-28 no assertion criteria provided clinical testing

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