ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1933T>A (p.Ser645Thr)

gnomAD frequency: 0.00073  dbSNP: rs2099104
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000487696 SCV000252307 uncertain significance not provided 2021-07-08 criteria provided, single submitter clinical testing Identified as heterozygous without a second variant in SPG7 in several individuals with hereditary spastic paraplegia; in one family, the authors did not consider the variant disease causing as it was absent in at least one affected family member (Elleuch et al., 2006; Arnoldi et al., 2008; Morais et al., 2017).; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 22571692, 27535533, 28832565, 18200586, 16534102)
Unit for Genetic & Epidemiological Research on Neurological Disorders, Instituto de Investigação e Inovação em Saúde RCV000515879 SCV000574483 uncertain significance Hereditary spastic paraplegia 2017-03-07 criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV000487696 SCV000575074 uncertain significance not provided 2023-06-01 criteria provided, single submitter clinical testing
Invitae RCV000640979 SCV000762588 likely benign Hereditary spastic paraplegia 7 2023-12-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000640979 SCV001280291 uncertain significance Hereditary spastic paraplegia 7 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV000515879 SCV002105862 uncertain significance Hereditary spastic paraplegia 2018-12-01 criteria provided, single submitter clinical testing

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