ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1553-2A>G

gnomAD frequency: 0.00003  dbSNP: rs1229749476
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698570 SCV000827242 pathogenic Hereditary spastic paraplegia 7 2020-11-25 criteria provided, single submitter clinical testing This variant has been observed on the opposite chromosome (in trans) from a pathogenic in an individual affected with spastic paraplegia (Invitae). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SPG7 are known to be pathogenic (PMID: 21623769, 22964162). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 11 of the SPG7 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
CeGaT Center for Human Genetics Tuebingen RCV001091057 SCV001246896 pathogenic not provided 2019-03-01 criteria provided, single submitter clinical testing

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