ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3244G>T (p.Ala1082Ser) (rs779459487)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985397 SCV001133547 uncertain significance not provided 2019-08-15 criteria provided, single submitter clinical testing
Invitae RCV001052052 SCV001216242 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-12-21 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 1082 of the BRCA1 protein (p.Ala1082Ser). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and serine. 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 conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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