ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.7182A>G (p.Ser2394=)

gnomAD frequency: 0.00001  dbSNP: rs768013904
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000915105 SCV001060300 likely benign Spastic paraplegia 2023-08-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003970417 SCV004782928 likely benign SACS-related condition 2019-08-26 criteria provided, single submitter 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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