ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5435C>T (p.Ala1812Val) (rs199885813)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000222750 SCV000273572 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-05 criteria provided, single submitter clinical testing Insufficient evidence
Counsyl RCV000674622 SCV000799991 uncertain significance Ataxia-telangiectasia syndrome 2018-05-16 criteria provided, single submitter clinical testing
Invitae RCV000674622 SCV000823241 uncertain significance Ataxia-telangiectasia syndrome 2019-01-23 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 1812 of the ATM protein (p.Ala1812Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with colorectal cancer (PMID: 28135145). ClinVar contains an entry for this variant (Variation ID: 230134). 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.
Color RCV000222750 SCV000913958 uncertain significance Hereditary cancer-predisposing syndrome 2020-04-07 criteria provided, single submitter clinical testing
Cancer Genomics Group,Japanese Foundation For Cancer Research RCV001030596 SCV001193481 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-05-01 criteria provided, single submitter research

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