ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1471C>G (p.Gln491Glu)

dbSNP: rs62625303
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000569954 SCV000665820 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-15 criteria provided, single submitter clinical testing The p.Q491E variant (also known as c.1471C>G), located in coding exon 9 of the BRCA1 gene, results from a C to G substitution at nucleotide position 1471. The glutamine at codon 491 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV000569954 SCV001353800 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-16 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000569954 SCV003851274 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).

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