ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.8956C>G (p.His2986Asp)

gnomAD frequency: 0.00001  dbSNP: rs751888795
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674258 SCV000799565 uncertain significance Charlevoix-Saguenay spastic ataxia 2018-04-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002531348 SCV003289416 uncertain significance Spastic paraplegia 2022-09-12 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with aspartic acid, which is acidic and polar, at codon 2986 of the SACS protein (p.His2986Asp). This variant is present in population databases (rs751888795, gnomAD 0.003%). This missense change has been observed in individual(s) with spastic ataxia (PMID: 28454995). ClinVar contains an entry for this variant (Variation ID: 558044). 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.

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