ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5068C>G (p.His1690Asp)

dbSNP: rs1591702291
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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 RCV000793100 SCV000932440 uncertain significance Ataxia-telangiectasia syndrome 2022-07-23 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with aspartic acid, which is acidic and polar, at codon 1690 of the ATM protein (p.His1690Asp). This variant is not present in population databases (gnomAD no frequency). 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: 640140). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ATM 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.
Baylor Genetics RCV004569514 SCV005057090 uncertain significance Familial cancer of breast 2024-01-05 criteria provided, single submitter clinical testing

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