ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.8621_8624del (p.Ser2874fs)

dbSNP: rs753012964
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409386 SCV000486716 likely pathogenic Charlevoix-Saguenay spastic ataxia 2016-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001861390 SCV002130711 pathogenic Spastic paraplegia 2021-05-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the SACS protein. Other variant(s) that disrupt this region (p.Tyr4538*) have been determined to be pathogenic (Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with SACS-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Ser2874Trpfs*9) in the SACS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1706 amino acid(s) of the SACS protein.
Mendelics RCV000409386 SCV002518998 pathogenic Charlevoix-Saguenay spastic ataxia 2022-05-04 criteria provided, single submitter clinical testing

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