ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7071G>A (p.Met2357Ile)

dbSNP: rs753951063
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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 RCV001026004 SCV001188303 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-25 criteria provided, single submitter clinical testing The c.7071G>A (p.M2357I) alteration is located in exon 48 (coding exon 47) of the ATM gene. This alteration results from a G to A substitution at nucleotide position 7071, causing the methionine (M) at amino acid position 2357 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001832363 SCV002313683 uncertain significance Ataxia-telangiectasia syndrome 2023-06-05 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 826819). This missense change has been observed in individual(s) with breast cancer (PMID: 33646313). This variant is present in population databases (rs753951063, gnomAD 0.003%). This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 2357 of the ATM protein (p.Met2357Ile).
Baylor Genetics RCV003461412 SCV004213948 uncertain significance Familial cancer of breast 2021-12-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832363 SCV002080119 uncertain significance Ataxia-telangiectasia syndrome 2021-04-23 no assertion criteria provided clinical testing

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