ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.847A>G (p.Lys283Glu)

dbSNP: rs1572160304
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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 RCV001017877 SCV001179040 uncertain significance Hereditary cancer-predisposing syndrome 2019-09-29 criteria provided, single submitter clinical testing The p.K283E variant (also known as c.847A>G), located in coding exon 9 of the CDC73 gene, results from an A to G substitution at nucleotide position 847. The lysine at codon 283 is replaced by glutamic acid, an amino acid with similar 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.
Baylor Genetics RCV004569965 SCV005060043 uncertain significance Hyperparathyroidism 1 2023-12-08 criteria provided, single submitter clinical testing

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