ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1391T>G (p.Ile464Ser)

dbSNP: rs1593144937
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000992779 SCV001145316 uncertain significance not provided 2018-09-18 criteria provided, single submitter clinical testing
Invitae RCV001869375 SCV002120958 uncertain significance Spastic paraplegia 2022-07-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SACS-related conditions. 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. 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. ClinVar contains an entry for this variant (Variation ID: 805289). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 464 of the SACS protein (p.Ile464Ser).
Natera, Inc. RCV001832306 SCV002086737 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-06-18 no assertion criteria provided clinical testing

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