ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1342C>T (p.His448Tyr)

dbSNP: rs2080098243
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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 RCV001240282 SCV001413213 uncertain significance Ataxia-telangiectasia syndrome 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 448 of the ATM protein (p.His448Tyr). The histidine residue is weakly conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with ATM-related conditions. 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 C15"). 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.

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