ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6850del (p.Val2284fs)

dbSNP: rs876659569
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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 RCV000213820 SCV000276174 pathogenic Hereditary cancer-predisposing syndrome 2018-02-26 criteria provided, single submitter clinical testing The c.6850delG pathogenic mutation, located in coding exon 46 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 6850, 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).
Labcorp Genetics (formerly Invitae), Labcorp RCV000628177 SCV000749070 pathogenic Ataxia-telangiectasia syndrome 2017-10-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). This variant has not been reported in the literature in individuals with ATM-related disease. ClinVar contains an entry for this variant (Variation ID: 232123). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val2284Leufs*26) in the ATM gene. It is expected to result in an absent or disrupted protein product.
Counsyl RCV000628177 SCV000795691 likely pathogenic Ataxia-telangiectasia syndrome 2017-11-16 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000213820 SCV000909471 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing This variant deletes 1 nucleotide in exon 47 of the ATM gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of ATM function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

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