ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.593A>G (p.Tyr198Cys)

gnomAD frequency: 0.00001  dbSNP: rs1461096954
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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 RCV000516715 SCV000614964 uncertain significance not provided 2018-09-26 criteria provided, single submitter clinical testing
Invitae RCV002527520 SCV003243941 uncertain significance Spastic paraplegia 2023-08-04 criteria provided, single submitter clinical testing 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 expected to disrupt SACS protein function. ClinVar contains an entry for this variant (Variation ID: 448209). This variant has not been reported in the literature in individuals affected with SACS-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 198 of the SACS protein (p.Tyr198Cys).
Natera, Inc. RCV001834670 SCV002086751 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-10-22 no assertion criteria provided clinical testing

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