ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1186C>G (p.His396Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000816776 SCV000957301 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-09-17 criteria provided, single submitter clinical testing This sequence change replaces histidine with aspartic acid at codon 396 of the BRIP1 protein (p.His396Asp). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Fanconi anemia (FA) (PMID: 23613520). This variant is also referred to as FANCJ-H396D in the literature. Experimental studies have shown that this missense change impairs the activity of the BRIP1-encoded DNA helicase (PMID: 29788478). 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985635 SCV001133998 likely pathogenic not provided 2019-07-26 criteria provided, single submitter clinical testing Not found in the total gnomAD dataset, and the data is high quality (0/282116 chr). Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein. Occurs in a single case with an otherwise positive result. Assessment of experimental evidence suggests this variant results in abnormal protein function.

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