ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1381_1383del (p.Tyr461del) (rs1064794073)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482651 SCV000567732 uncertain significance not provided 2015-08-24 criteria provided, single submitter clinical testing This deletion of 3 nucleotides in BRIP1 is denoted c.1381_1383delTAT at the cDNA level and p.Tyr461del (Y461del) at the protein level. The normal sequence, with the bases that are deleted in braces, is AGAT[TAT]GAAT. This in frame deletion of a single Tyrosine residue occurs at a position that is conserved across species and is located in the helicase domain (Cantor 2011). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. Since in frame deletions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider BRIP1 Tyr461del to be a variant of uncertain significance.

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