ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.9119dup (p.Asn3040fs)

dbSNP: rs1435126137
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847552 SCV002105112 pathogenic Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001885404 SCV002151245 pathogenic Spastic paraplegia 2023-12-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn3040Lysfs*5) in the SACS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1540 amino acid(s) of the SACS protein. This variant is present in population databases (no rsID available, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with hereditary spastic paraplegia (PMID: 29449188). This variant is also known as c.9119dupA; p.Asn3040Lysfs*4. ClinVar contains an entry for this variant (Variation ID: 1344007). 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.
Fulgent Genetics, Fulgent Genetics RCV005006088 SCV005634271 likely pathogenic Charlevoix-Saguenay spastic ataxia 2024-03-29 criteria provided, single submitter clinical testing

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