ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1937-2A>G

gnomAD frequency: 0.00002  dbSNP: rs568556987
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554743 SCV000640074 pathogenic Hereditary spastic paraplegia 7 2020-03-03 criteria provided, single submitter clinical testing 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). Disruption of this splice site has been observed in combination with another SPG7 variant in individuals with clinical features of hereditary spastic paraplegia and to segregate with disease in a family (PMID: 22964162, 30533525). ClinVar contains an entry for this variant (Variation ID: 465174). This variant is present in population databases (rs568556987, ExAC 0.02%). This sequence change affects an acceptor splice site in intron 14 of the SPG7 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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