ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.171+1G>A

dbSNP: rs1871663012
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Natera, Inc. RCV003466330 SCV007528145 likely pathogenic Charlevoix-Saguenay spastic ataxia 2024-09-24 criteria provided, single submitter clinical testing The c.171+1G>A variant in SACS is a canonical splice donor site variant predicted to affect pre-mRNA splicing, which may result in an abnormal transcript and altered protein product. This variant is expected to result in nonsense mediated decay, truncation, or a dysfunctional protein product. This variant is rare in the general population with a frequency below the threshold expected for the associated phenotype(s). Given the available evidence, this variant is classified as Likely Pathogenic.
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research RCV003466330 SCV005061939 likely pathogenic Charlevoix-Saguenay spastic ataxia 2022-01-01 criteria provided, single submitter research
Baylor Genetics RCV003466330 SCV004209944 likely pathogenic Charlevoix-Saguenay spastic ataxia 2024-03-25 criteria provided, single submitter clinical testing

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