ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.12059A>G (p.Lys4020Arg)

gnomAD frequency: 0.00001  dbSNP: rs1328721442
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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 RCV000798545 SCV000938166 uncertain significance Spastic paraplegia 2022-02-04 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 4020 of the SACS protein (p.Lys4020Arg). This variant is not present in population databases (gnomAD no frequency). 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: 644590). 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. RCV001825572 SCV002086137 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-02-08 no assertion criteria provided clinical testing

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