ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5551C>T (p.Leu1851Phe) (rs200842502)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000565602 SCV000667846 uncertain significance Hereditary cancer-predisposing syndrome 2017-05-03 criteria provided, single submitter clinical testing Insufficient or conflicting evidence;In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Color RCV000565602 SCV000682271 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-14 criteria provided, single submitter clinical testing
Invitae RCV001231064 SCV001403568 uncertain significance Ataxia-telangiectasia syndrome 2019-10-08 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 1851 of the ATM protein (p.Leu1851Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs200842502, ExAC 0.02%). This variant has been observed in trans (on the opposite chromosome) from a pathogenic variant in ATM in an individual affected with colorectal polyps (Invitae). Considering that biallelic pathogenic variants are expected to be found in an individual affected with ataxia-telangiectasia, this evidence indicates that this variant is not a primary cause of disease. ClinVar contains an entry for this variant (Variation ID: 482544). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.

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