ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter) (rs1057517250)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412241 SCV000486982 likely pathogenic Charlevoix-Saguenay spastic ataxia 2016-09-19 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000992769 SCV001145303 pathogenic not provided 2019-07-23 criteria provided, single submitter clinical testing The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data.

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