ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.13561_13562del (p.Thr4520_Asn4521insTer)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics, Royal Melbourne Hospital RCV003994645 SCV004812403 uncertain significance Charlevoix-Saguenay spastic ataxia 2022-12-23 criteria provided, single submitter clinical testing This sequence change in SACS is a frameshift variant predicted to cause a premature stop codon, p.(Asn4521*), that is predicted to escape nonsense-mediated decay and remove <10% of the protein, however it is a truncation of a functionally important HEPN domain (removes amino acids 4521-4579) in a gene where loss of function is an established disease mechanism (PMID: 21507954). This variant is absent from the population database gnomAD v2.1 and v3.1. To our knowledge, this variant has not been reported in the relevant scientific literature or databases. Based on the classification scheme RMH Modified ACMG Guidelines v1.5.1, this variant is classified as a VARIANT OF UNCERTAIN SIGNIFICANCE. Following criteria are met: PVS1_Strong, PM2_Supporting.

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