ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.8281G>A (p.Val2761Met)

gnomAD frequency: 0.00001  dbSNP: rs372119773
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001244439 SCV001417659 uncertain significance Spastic paraplegia 2022-06-04 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 2761 of the SACS protein (p.Val2761Met). This variant is present in population databases (rs372119773, gnomAD 0.0009%). 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: 969158). 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. RCV001829930 SCV002086210 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-03-18 no assertion criteria provided clinical testing

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