ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3343C>T (p.Leu1115Phe)

dbSNP: rs752339681
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001365671 SCV001561948 uncertain significance Ataxia-telangiectasia syndrome 2023-08-11 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1115 of the ATM protein (p.Leu1115Phe). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 1056791). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The phenylalanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001799073 SCV002042081 uncertain significance Breast and/or ovarian cancer 2021-07-09 criteria provided, single submitter clinical testing
Baylor Genetics RCV003469603 SCV004207738 uncertain significance Familial cancer of breast 2023-08-20 criteria provided, single submitter clinical testing

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