ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2231C>A (p.Ala744Asp) (rs786204220)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168347 SCV000219036 uncertain significance Hereditary breast and ovarian cancer syndrome 2014-12-18 criteria provided, single submitter clinical testing This sequence change replaces alanine with aspartic acid at codon 744 of the BRCA1 protein (p.Ala744Asp). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and aspartic acid. This sequence change has not been published in the literature and is not present in population databases. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV001014829 SCV001175589 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-14 criteria provided, single submitter clinical testing Insufficient evidence

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