ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.514G>A (p.Ala172Thr)

dbSNP: rs1555568157
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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 RCV000572663 SCV000667166 uncertain significance Hereditary cancer-predisposing syndrome 2016-12-14 criteria provided, single submitter clinical testing The p.A172T variant (also known as c.514G>A), located in coding exon 6 of the RAD51D gene, results from a G to A substitution at nucleotide position 514. The alanine at codon 172 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well 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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