ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.38A>T (p.Glu13Val)

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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 RCV004952503 SCV005551987 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-02 criteria provided, single submitter clinical testing The p.E13V variant (also known as c.38A>T), located in coding exon 1 of the BRCA2 gene, results from an A to T substitution at nucleotide position 38. The glutamic acid at codon 13 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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