ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8659C>T (p.His2887Tyr)

dbSNP: rs1591274530
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001863409 SCV002113355 uncertain significance Ataxia-telangiectasia syndrome 2021-05-28 criteria provided, single submitter clinical testing 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 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. This variant has not been reported in the literature in individuals with ATM-related conditions. This sequence change replaces histidine with tyrosine at codon 2887 of the ATM protein (p.His2887Tyr). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is not present in population databases (ExAC no frequency).

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