ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4664del (p.Leu1555fs) (rs876659039)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000214193 SCV000275009 pathogenic Hereditary cancer-predisposing syndrome 2015-04-07 criteria provided, single submitter clinical testing The c.4664delT pathogenic mutation, located in coding exon 30 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 4664, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Counsyl RCV000667950 SCV000792479 likely pathogenic Ataxia-telangiectasia syndrome 2017-06-26 criteria provided, single submitter clinical testing
Color Health, Inc RCV000214193 SCV001350121 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing
Invitae RCV000667950 SCV001395193 pathogenic Ataxia-telangiectasia syndrome 2019-08-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1555Profs*8) in the ATM gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 231231). Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.

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