ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.2293G>A (p.Asp765Asn)

gnomAD frequency: 0.00001  dbSNP: rs374941242
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001768881 SCV001993640 uncertain significance not provided 2023-06-26 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Identified as heterozygous in an individual with hereditary spastic paraplegia who also carried an additional nuclear variant that could explain the disease (Estiar MA et al., 2021); This variant is associated with the following publications: (PMID: 33598982)
Labcorp Genetics (formerly Invitae), Labcorp RCV003617936 SCV004559197 uncertain significance Hereditary spastic paraplegia 7 2022-10-21 criteria provided, single submitter clinical testing 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 SPG7 protein function. ClinVar contains an entry for this variant (Variation ID: 1305674). This variant has not been reported in the literature in individuals affected with SPG7-related conditions. This variant is present in population databases (rs374941242, gnomAD 0.004%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 765 of the SPG7 protein (p.Asp765Asn). 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.

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