ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2909A>T (p.Lys970Ile) (rs756559408)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468440 SCV000549410 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-10-03 criteria provided, single submitter clinical testing This sequence change replaces lysine with isoleucine at codon 970 of the BRCA1 protein (p.Lys970Ile). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant occurs with a pathogenic variant in BRCA1 in a relative of an individual affected with breast cancer (PMID: 22752604). While it is unknown if these variants are on the same or opposite chromosomes, this observation suggests that the c.2909A>T variant is not a primary cause of disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000580777 SCV000683071 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-31 criteria provided, single submitter clinical testing

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