ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1544A>G (p.Asp515Gly)

gnomAD frequency: 0.00076  dbSNP: rs145843634
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000214259 SCV000277236 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-27 criteria provided, single submitter clinical testing The p.D515G variant (also known as c.1544A>G), located in coding exon 10 of the RAD50 gene, results from an A to G substitution at nucleotide position 1544. The aspartic acid at codon 515 is replaced by glycine, an amino acid with similar properties. This variant was reported in 1/19 individuals diagnosed with triple negative breast cancer (Spugnesi L et al. Genes Chromosomes Cancer. 2016 Dec;55:915-924). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000214259 SCV000559091 benign Hereditary cancer-predisposing syndrome 2023-09-26 criteria provided, single submitter clinical testing

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