ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.182A>G (p.Gln61Arg)

gnomAD frequency: 0.00003  dbSNP: rs1306012072
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090549 SCV001246154 uncertain significance not provided 2019-07-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196946 SCV001367580 uncertain significance Hereditary spastic paraplegia 7 2018-11-30 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3.
Labcorp Genetics (formerly Invitae), Labcorp RCV001196946 SCV002131311 uncertain significance Hereditary spastic paraplegia 7 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 61 of the SPG7 protein (p.Gln61Arg). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and arginine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with SPG7-related conditions. ClinVar contains an entry for this variant (Variation ID: 870872). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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