ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.11965G>T (p.Val3989Phe)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002667661 SCV002986434 uncertain significance Spastic paraplegia 2022-06-08 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. This variant has not been reported in the literature in individuals affected with SACS-related conditions. This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 3989 of the SACS protein (p.Val3989Phe).
Revvity Omics, Revvity RCV003138328 SCV003820615 uncertain significance Charlevoix-Saguenay spastic ataxia 2022-10-13 criteria provided, single submitter clinical testing

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