ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3064A>T (p.Ile1022Phe)

dbSNP: rs786202470
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000796057 SCV000935548 likely benign Ataxia-telangiectasia syndrome 2023-01-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001188744 SCV001355880 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-04 criteria provided, single submitter clinical testing This missense variant replaces isoleucine with phenylalanine at codon 1022 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 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.
Ambry Genetics RCV001188744 SCV005037732 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-16 criteria provided, single submitter clinical testing The p.I1022F variant (also known as c.3064A>T), located in coding exon 19 of the ATM gene, results from an A to T substitution at nucleotide position 3064. The isoleucine at codon 1022 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000796057 SCV002076625 uncertain significance Ataxia-telangiectasia syndrome 2020-12-17 no assertion criteria provided clinical testing

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