ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.13738_13739del (p.Ter4580LysextTer?)

dbSNP: rs776682685
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599242 SCV000710518 uncertain significance not provided 2018-01-26 criteria provided, single submitter clinical testing The c.13738_13739delTG variant in the SACS gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.13738_13739delTG variant causes a 10 amino acid extension of the protein at codon 4580, resulting in an extension of the stop codon, denoted p.X4580KextX10. The c.13738_13739delTG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.13738_13739delTG as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000822418 SCV000963219 uncertain significance Spastic paraplegia 2021-08-30 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the SACS mRNA. It is expected to extend the length of the SACS protein by 10 additional amino acid residues. This variant is present in population databases (rs776682685, ExAC 0.02%). 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: 504206). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome-Nilou Lab RCV001274914 SCV002027678 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001274914 SCV002790085 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-11-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274914 SCV001459467 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-09-16 no assertion criteria provided clinical testing

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