ClinVar Miner

Submissions for variant NM_198586.3(NHLRC1):c.269T>C (p.Ile90Thr)

dbSNP: rs1582030401
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000805653 SCV000945617 uncertain significance Lafora disease 2021-10-10 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 90 of the NHLRC1 protein (p.Ile90Thr). The isoleucine residue is weakly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with NHLRC1-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 C45"). 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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