ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5324T>C (p.Val1775Ala) (rs1555284172)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000586877 SCV000694859 uncertain significance not provided 2016-11-14 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.5324T>C (p.Val1775Ala) variant involves the alteration of a non-conserved nucleotide and is located outside of any known functional domain or repeat (via InterPro) with 4/5 in silico tools predicting a benign outcome, although these predictions have yet to be functionally assessed. The variant is absent from controls (ExAC, 1000 Gs, or ESP), nor has it been, to our knowledge, reported in affected individuals via publications and/or reputable database/clinical diagnostic laboratories. Taking together, the variant has been classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available.

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