ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1593C>T (p.His531=)

gnomAD frequency: 0.00047  dbSNP: rs61747706
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001200611 SCV000535656 likely benign not provided 2019-07-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001200611 SCV001371617 likely benign not provided 2020-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001446058 SCV001649100 likely benign Hereditary spastic paraplegia 7 2025-01-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003970245 SCV004780322 likely benign SPG7-related disorder 2020-11-30 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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