ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2147T>G (p.Val716Gly)

dbSNP: rs864622294
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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 RCV000205902 SCV000260009 uncertain significance Ataxia-telangiectasia syndrome 2020-09-23 criteria provided, single submitter clinical testing This sequence change replaces valine with glycine at codon 716 of the ATM protein (p.Val716Gly). The valine residue is moderately conserved and there is a moderate physicochemical difference between valine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 219884). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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