ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4441G>A (p.Ala1481Thr) (rs1135401828)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000496683 SCV000635977 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 1481 of the BRCA1 protein (p.Ala1481Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. 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: 431186). 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.
Ambry Genetics RCV000562403 SCV000661005 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-28 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Color RCV000562403 SCV000683184 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-31 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758829 SCV000887694 uncertain significance not provided 2019-08-27 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000496683 SCV000586898 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-04-14 no assertion criteria provided clinical testing

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