ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8068T>G (p.Phe2690Val)

dbSNP: rs2086677473
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001348860 SCV001543179 uncertain significance Ataxia-telangiectasia syndrome 2022-11-15 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2690 of the ATM protein (p.Phe2690Val). 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. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1044594).
Baylor Genetics RCV004570849 SCV005057062 uncertain significance Familial cancer of breast 2024-01-22 criteria provided, single submitter clinical testing

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