ClinVar Miner

Submissions for variant NM_001351169.2(NT5C2):c.540-4G>A

gnomAD frequency: 0.00019  dbSNP: rs201261415
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848548 SCV002105441 uncertain significance Hereditary spastic paraplegia 2020-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002074417 SCV002404802 benign Hereditary spastic paraplegia 45 2023-10-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002543413 SCV003548991 uncertain significance Inborn genetic diseases 2021-01-20 criteria provided, single submitter clinical testing The c.540-4G>A intronic alteration consists of a G to A substitution 4 nucleotides before coding exon <NA> in the NT5C2 gene. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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