ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2503C>T (p.His835Tyr) (rs751656678)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000509855 SCV000608216 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-10 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759507 SCV000888868 uncertain significance not provided 2017-12-11 criteria provided, single submitter clinical testing
Color RCV000509855 SCV000909342 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-02 criteria provided, single submitter clinical testing
Invitae RCV000792748 SCV000932064 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-08-14 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 835 of the BRCA1 protein (p.His835Tyr). The histidine residue is weakly conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is present in population databases (rs751656678, ExAC 0.001%). This variant has been observed in families affected with breast and/or ovarian cancer (PMID: 12938098, 18273839). This variant is also known as c.2622C>T in the literature. ClinVar contains an entry for this variant (Variation ID: 441498). 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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