ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7813ATA[1] (p.Ile2606del)

dbSNP: rs786203830
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167305 SCV000218150 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-28 criteria provided, single submitter clinical testing The c.7816_7818delATA variant (also known as p.I2606del) is located in coding exon 52 of the ATM gene. This variant results from an in-frame ATA deletion at nucleotide positions 7816 to 7818. This results in the in-frame deletion of an isoleucine at codon 2606. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Based on the available evidence, the clinical significance of this variant remains unclear.
Color Diagnostics, LLC DBA Color Health RCV000167305 SCV000904737 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-05 criteria provided, single submitter clinical testing This variant causes a deletion of 1 amino acid from the ATM protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001238094 SCV001410889 uncertain significance Ataxia-telangiectasia syndrome 2022-02-09 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 187566). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.7816_7818del, results in the deletion of 1 amino acid(s) of the ATM protein (p.Ile2606del), but otherwise preserves the integrity of the reading frame.

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