ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5048T>A (p.Phe1683Tyr)

dbSNP: rs2083322735
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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 RCV001984208 SCV002278031 uncertain significance Ataxia-telangiectasia syndrome 2020-12-12 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with tyrosine at codon 1683 of the ATM protein (p.Phe1683Tyr). The phenylalanine residue is moderately conserved and there is a small physicochemical difference between phenylalanine and tyrosine. 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. 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. This variant has not been reported in the literature in individuals with ATM-related conditions. This variant is not present in population databases (ExAC no frequency).

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