ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1720A>C (p.Lys574Gln)

gnomAD frequency: 0.00002  dbSNP: rs779597467
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165578 SCV000216312 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-27 criteria provided, single submitter clinical testing The p.K574Q variant (also known as c.1720A>C), located in coding exon 11 of the RAD50 gene, results from an A to C substitution at nucleotide position 1720. The lysine at codon 574 is replaced by glutamine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated 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 RCV000165578 SCV000289014 benign Hereditary cancer-predisposing syndrome 2023-11-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV003468747 SCV004207380 uncertain significance Nijmegen breakage syndrome-like disorder 2023-06-30 criteria provided, single submitter clinical testing

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