ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2126T>A (p.Leu709His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004170139 SCV003655260 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-26 criteria provided, single submitter clinical testing The c.2126T>A (p.L709H) alteration is located in exon 15 (coding exon 14) of the BRIP1 gene. This alteration results from a T to A substitution at nucleotide position 2126, causing the leucine (L) at amino acid position 709 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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