Submissions for variant NM_032043.3(BRIP1):c.1264C>G (p.Leu422Val)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002447820	SCV002678899	uncertain significance	Hereditary cancer-predisposing syndrome	2022-05-27	criteria provided, single submitter	clinical testing	The p.L422V variant (also known as c.1264C>G), located in coding exon 8 of the BRIP1 gene, results from a C to G substitution at nucleotide position 1264. The leucine at codon 422 is replaced by valine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV004534075	SCV004111859	uncertain significance	BRIP1-related disorder	2023-02-13	criteria provided, single submitter	clinical testing	The BRIP1 c.1264C>G variant is predicted to result in the amino acid substitution p.Leu422Val. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.