ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.12148T>C (p.Phe4050Leu)

gnomAD frequency: 0.00060  dbSNP: rs147013767
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001644778 SCV000843519 likely benign not specified 2024-02-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001049336 SCV001213382 likely benign Spastic paraplegia 2024-11-05 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480803 SCV004226405 uncertain significance not provided 2023-02-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274918 SCV001459472 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004748913 SCV005353849 likely benign SACS-related disorder 2024-08-11 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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