ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1227T>C (p.Leu409=)

dbSNP: rs1060504273
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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 RCV001088601 SCV000558330 likely benign Ataxia-telangiectasia syndrome 2023-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000481318 SCV000572778 uncertain significance not provided 2017-01-18 criteria provided, single submitter clinical testing This variant is denoted ATM c.1227T>C at the DNA level. This variant is silent at the coding level, preserving a Leucine at codon 409. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. In silico splicing models are uninformative; therefore, in the absence of RNA or functional studies, the actual effect of this variant is unknown. ATM c.1227T>C was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The nucleotide which is altered, a thymine (T) at base 1227, is conserved in mammals. Based on currently available information, it is unclear whether ATM c.1227T>C is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000569918 SCV000660599 likely benign Hereditary cancer-predisposing syndrome 2016-04-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV000481318 SCV004133238 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing ATM: PM2:Supporting, BP4, BP7
Myriad Genetics, Inc. RCV004591342 SCV005082864 benign Familial cancer of breast 2024-04-25 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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