ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.11684T>G (p.Val3895Gly)

gnomAD frequency: 0.00001  dbSNP: rs766487632
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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 RCV001303997 SCV001493264 uncertain significance Spastic paraplegia 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces valine with glycine at codon 3895 of the SACS protein (p.Val3895Gly). The valine residue is moderately conserved and there is a moderate physicochemical difference between valine and glycine. This variant is present in population databases (rs766487632, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with SACS-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. RCV001835466 SCV002086149 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-08-04 no assertion criteria provided clinical testing

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