ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.185G>A (p.Ser62Asn)

gnomAD frequency: 0.00002  dbSNP: rs143294686
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000469479 SCV000552957 uncertain significance Hereditary spastic paraplegia 7 2016-08-25 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 62 of the SPG7 protein (p.Ser62Asn). The serine residue is weakly conserved and there is a small physicochemical difference between serine and asparagine. This variant is present in population databases at a very low frequency  (rs143294686, ExAC <0.01%) but has not been reported in the literature in individuals with a SPG7-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). The asparagine amino acid residue is also found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Eurofins Ntd Llc (ga) RCV000591290 SCV000703934 uncertain significance not provided 2017-01-04 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000591290 SCV002541376 uncertain significance not provided 2021-08-19 criteria provided, single submitter clinical testing

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