ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.287C>T (p.Thr96Ile)

dbSNP: rs2078908690
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001876260 SCV002152234 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2023-02-10 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRIP1 protein function. 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. ClinVar contains an entry for this variant (Variation ID: 929518). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 96 of the BRIP1 protein (p.Thr96Ile). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRIP1-related conditions.
Leiden Open Variation Database RCV001194699 SCV001364455 uncertain significance not provided 2019-08-13 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Yukihide Momozawa.

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