ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4941_4943del (p.Val1649del)

dbSNP: rs1591692664
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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 RCV001023301 SCV001185157 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-20 criteria provided, single submitter clinical testing The c.4941_4943delAGT variant (also known as p.V1649del) is located in coding exon 32 of the ATM gene. This variant results from an in-frame AGT deletion at nucleotide positions 4941 to 4943. This results in the in-frame deletion of a valine at codon 1649. This amino acid position is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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