ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.10470T>C (p.Tyr3490=)

gnomAD frequency: 0.00001  dbSNP: rs755590920
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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 RCV001474980 SCV001679160 likely benign Spastic paraplegia 2024-02-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003895287 SCV004712710 likely benign SACS-related disorder 2022-02-27 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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