ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.5707_5708del (p.Asp1903fs)

dbSNP: rs1593129673
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000800465 SCV000940183 pathogenic Spastic paraplegia 2023-09-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp1903Tyrfs*31) in the SACS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 2677 amino acid(s) of the SACS protein. This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the SACS protein in which other variant(s) (p.3903*, p.Lys2931Asnfs*22, p.Ile2949Phefs*4) have been determined to be pathogenic (PMID: 10655055, 11788093, 15486997, 19892370, 21745802). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 646225). This variant has not been reported in the literature in individuals affected with SACS-related conditions.
Baylor Genetics RCV003472362 SCV004202288 likely pathogenic Charlevoix-Saguenay spastic ataxia 2022-09-17 criteria provided, single submitter clinical testing

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