ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1869del (p.Arg624fs)

gnomAD frequency: 0.00001  dbSNP: rs1006060877
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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 RCV000704212 SCV000833151 pathogenic Spastic paraplegia 2021-03-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg624Glyfs*3) in the SACS gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SACS-related disease. Loss-of-function variants in SACS are known to be pathogenic (PMID: 18465152, 20876471). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003472245 SCV004202310 likely pathogenic Charlevoix-Saguenay spastic ataxia 2023-12-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004997208 SCV005622140 pathogenic not provided 2024-06-13 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. This variant has not been reported in large, multi-ethnic general populations. (http://gnomad.broadinstitute.org) This variant has been identified in at least one individual tested at Athena Diagnostics with clinical features associated with this gene.

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