ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4327C>T (p.His1443Tyr)

dbSNP: rs1555097538
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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 RCV000528802 SCV000622491 uncertain significance Ataxia-telangiectasia syndrome 2017-03-19 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an ATM-related disease. This sequence change replaces histidine with tyrosine at codon 1443 of the ATM protein (p.His1443Tyr). The histidine residue is moderately conserved and there is a moderate physicochemical difference between histidine and tyrosine.
Baylor Genetics RCV003464120 SCV004213916 uncertain significance Familial cancer of breast 2022-03-27 criteria provided, single submitter clinical testing

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