ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.400T>C (p.Tyr134His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003472532 SCV004200358 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 4 2023-09-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004943061 SCV005485319 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-08 criteria provided, single submitter clinical testing The p.Y134H variant (also known as c.400T>C), located in coding exon 5 of the RAD51D gene, results from a T to C substitution at nucleotide position 400. The tyrosine at codon 134 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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