ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.13614C>A (p.Tyr4538Ter)

dbSNP: rs927804920
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001045016 SCV001208843 pathogenic Spastic paraplegia 2024-01-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr4538*) in the SACS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 42 amino acid(s) of the SACS protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SACS-related conditions. ClinVar contains an entry for this variant (Variation ID: 842578). This variant disrupts a region of the SACS protein in which other variant(s) (p.Asn4549Asp) have been determined to be pathogenic (PMID: 15156359, 21507954). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001832428 SCV002086120 likely pathogenic Charlevoix-Saguenay spastic ataxia 2021-06-04 no assertion criteria provided clinical testing

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