ClinVar Miner

Submissions for variant NM_001351169.2(NT5C2):c.1665GGA[4] (p.Glu561del)

dbSNP: rs537259520
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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 RCV001326180 SCV001517198 uncertain significance Hereditary spastic paraplegia 45 2022-07-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu561*) in the NT5C2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1 amino acid(s) of the NT5C2 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with NT5C2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1025816). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847240 SCV002105437 likely benign Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing

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