ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4790C>A (p.Thr1597Asn) (rs587781623)

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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 RCV000129713 SCV000184516 uncertain significance Hereditary cancer-predisposing syndrome 2013-10-02 criteria provided, single submitter clinical testing Insufficient evidence
Color RCV000129713 SCV000688519 uncertain significance Hereditary cancer-predisposing syndrome 2020-04-06 criteria provided, single submitter clinical testing
Invitae RCV000802330 SCV000942155 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-12-21 criteria provided, single submitter clinical testing This sequence change replaces threonine with asparagine at codon 1597 of the BRCA1 protein (p.Thr1597Asn). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and asparagine. This variant is present in population databases (rs587781623, ExAC 0.009%). This variant has been observed in an individual affected with breast and/or ovarian cancer (PMID: 29470806). ClinVar contains an entry for this variant (Variation ID: 141272). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but 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.

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