ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.250T>C (p.Leu84=)

gnomAD frequency: 0.00011  dbSNP: rs138965309
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000862674 SCV001003210 likely benign Hereditary spastic paraplegia 7 2022-03-12 criteria provided, single submitter clinical testing
GeneDx RCV001555487 SCV001776920 likely benign not provided 2019-04-19 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849162 SCV002105888 uncertain significance Hereditary spastic paraplegia 2020-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955591 SCV004767680 likely benign SPG7-related disorder 2022-02-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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