ClinVar Miner

Submissions for variant NM_001351169.2(NT5C2):c.1665GGA[7] (p.Glu561_Ter562insGluGlu)

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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 RCV002923658 SCV003272681 uncertain significance Hereditary spastic paraplegia 45 2022-12-06 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with NT5C2-related conditions. This variant is present in population databases (rs751199209, gnomAD 0.004%). This sequence change disrupts the translational stop signal of the NT5C2 mRNA. It is expected to extend the length of the NT5C2 protein by 2 additional amino acid residues.

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