ClinVar Miner

Submissions for variant NM_004722.4(AP4M1):c.330C>G (p.Tyr110Ter)

dbSNP: rs752598529
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000377219 SCV000330089 pathogenic not provided 2023-05-11 criteria provided, single submitter clinical testing Reported in individuals with hereditary spastic paraplegia in the published literature (Ebrahimi-Fakhari et al., 2020); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32979048)
Yale Center for Mendelian Genomics, Yale University RCV001849358 SCV002106874 likely pathogenic Spastic paraplegia 2020-10-01 no assertion criteria provided literature only

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