ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.5711C>T (p.Thr1904Ile)

dbSNP: rs758570844
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000995037 SCV001148944 uncertain significance not provided 2017-10-01 criteria provided, single submitter clinical testing
Invitae RCV001245729 SCV001419032 uncertain significance Spastic paraplegia 2022-09-26 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 not expected to disrupt SACS protein function. ClinVar contains an entry for this variant (Variation ID: 806987). This variant has not been reported in the literature in individuals affected with SACS-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1904 of the SACS protein (p.Thr1904Ile).
Genome-Nilou Lab RCV001784527 SCV002026523 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001784527 SCV002086254 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-07-31 no assertion criteria provided clinical testing

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