ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1651C>T (p.Arg551Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003508893 SCV004300264 uncertain significance Hereditary spastic paraplegia 7 2023-04-15 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 SPG7 protein function. This variant has not been reported in the literature in individuals affected with SPG7-related conditions. This variant is present in population databases (rs763854903, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 551 of the SPG7 protein (p.Arg551Cys).

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