ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1374A>G (p.Thr458=)

gnomAD frequency: 0.00076  dbSNP: rs149129638
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000866381 SCV001007468 likely benign Spastic paraplegia 2025-01-20 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001288705 SCV001476015 benign not specified 2019-12-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277271 SCV001464187 likely benign Charlevoix-Saguenay spastic ataxia 2020-05-02 no assertion criteria provided clinical testing

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