ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.164C>T (p.Ala55Val)

dbSNP: rs1603367684
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000812965 SCV000953295 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 55 of the BRIP1 protein (p.Ala55Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with BRIP1-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: "Deleterious"; PolyPhen-2: "Probably 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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