ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.760G>T (p.Asp254Tyr)

dbSNP: rs1567799662
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000709512 SCV000839336 uncertain significance Hereditary breast ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388351 SCV002671844 uncertain significance Hereditary cancer-predisposing syndrome 2020-11-06 criteria provided, single submitter clinical testing The p.D254Y variant (also known as c.760G>T), located in coding exon 5 of the RAD51C gene, results from a G to T substitution at nucleotide position 760. The aspartic acid at codon 254 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is highly 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.

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