ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.11150A>T (p.Lys3717Ile)

gnomAD frequency: 0.00001  dbSNP: rs1883567634
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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 RCV001296954 SCV001485932 uncertain significance Spastic paraplegia 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces lysine with isoleucine at codon 3717 of the SACS protein (p.Lys3717Ile). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SACS-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SACS protein function. 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.
Natera, Inc. RCV001830141 SCV002086161 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-10-08 no assertion criteria provided clinical testing

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