ClinVar Miner

Submissions for variant NM_001351169.2(NT5C2):c.57G>C (p.Met19Ile)

gnomAD frequency: 0.00001  dbSNP: rs762854961
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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 RCV000652090 SCV000773958 uncertain significance Hereditary spastic paraplegia 45 2021-10-23 criteria provided, single submitter clinical testing This sequence change replaces methionine with isoleucine at codon 19 of the NT5C2 protein (p.Met19Ile). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and isoleucine. This variant is present in population databases (rs762854961, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with NT5C2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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