ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.865C>T (p.Gln289Ter)

dbSNP: rs1131691968
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494238 SCV000583247 likely pathogenic not provided 2016-08-10 criteria provided, single submitter clinical testing The Q289X nonsense variant in the SPG7 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Additionally, other downstream nonsense pathogenic variants have been reported in Human Gene Mutation Database in association with spastic paraplegia (Stenson et al., 2014).

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