ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2603A>T (p.Asp868Val)

dbSNP: rs750322758
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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 RCV001016078 SCV001176991 uncertain significance Hereditary cancer-predisposing syndrome 2019-07-08 criteria provided, single submitter clinical testing The p.D868V variant (also known as c.2603A>T), located in coding exon 16 of the ATM gene, results from an A to T substitution at nucleotide position 2603. The aspartic acid at codon 868 is replaced by valine, an amino acid with highly dissimilar properties. This amino acid position is 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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