ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.4299G>A (p.Trp1433Ter)

dbSNP: rs768209419
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001289171 SCV001476819 pathogenic not provided 2024-09-30 criteria provided, single submitter clinical testing The frequency of this variant in the general population is consistent with pathogenicity. (http://gnomad.broadinstitute.org) This variant is not expected to cause loss of protein expression through nonsense-mediated decay. However, it disrupts a critical region of the protein, and therefore, is expected to severely disrupt its function. This variant has been identified in at least one individual tested at Athena Diagnostics with clinical features associated with this gene.
Natera, Inc. RCV001830105 SCV002086275 likely pathogenic Charlevoix-Saguenay spastic ataxia 2021-02-02 no assertion criteria provided clinical testing

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