ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.878A>T (p.Asp293Val)

dbSNP: rs932236548
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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 RCV000574029 SCV000661780 uncertain significance Hereditary cancer-predisposing syndrome 2016-12-21 criteria provided, single submitter clinical testing The p.D293V variant (also known as c.878A>T), located in coding exon 7 of the CHEK2 gene, results from an A to T substitution at nucleotide position 878. The aspartic acid at codon 293 is replaced by valine, an amino acid with highly dissimilar 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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