ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1115C>T (p.Ala372Val)

gnomAD frequency: 0.00001  dbSNP: rs776176403
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001575605 SCV001802636 uncertain significance not provided 2020-04-08 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003771749 SCV004683006 uncertain significance Hereditary spastic paraplegia 7 2022-12-21 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 372 of the SPG7 protein (p.Ala372Val). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SPG7 protein function. ClinVar contains an entry for this variant (Variation ID: 1207570). This variant has not been reported in the literature in individuals affected with SPG7-related conditions. This variant is present in population databases (rs776176403, gnomAD 0.002%).

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