ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3236C>G (p.Ala1079Gly)

dbSNP: rs778233602
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000476643 SCV000546939 uncertain significance Ataxia-telangiectasia syndrome 2023-10-11 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 1079 of the ATM protein (p.Ala1079Gly). This variant is present in population databases (rs778233602, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 407615). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Ambry Genetics RCV000572208 SCV000660688 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-18 criteria provided, single submitter clinical testing The p.A1079G variant (also known as c.3236C>G), located in coding exon 21 of the ATM gene, results from a C to G substitution at nucleotide position 3236. The alanine at codon 1079 is replaced by glycine, an amino acid with similar properties. This amino acid position is highly 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002480387 SCV002774793 uncertain significance not provided 2021-08-09 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000572208 SCV004362318 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-17 criteria provided, single submitter clinical testing This missense variant replaces alanine with glycine at codon 1079 of the ATM protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with ATM-related disorders in the literature. This variant has been identified in 1/251296 chromosomes 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.
Baylor Genetics RCV004567998 SCV005056978 uncertain significance Familial cancer of breast 2024-02-16 criteria provided, single submitter clinical testing

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