ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.80_83delinsTGCTGTAAACTGTAACTGTAAA (p.Arg27_Ile28delinsLeuLeuTer)

dbSNP: rs397704705
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Paris Brain Institute, Inserm - ICM RCV000000012 SCV001451119 pathogenic Hereditary spastic paraplegia 48 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004998069 SCV005622007 pathogenic not provided 2024-06-25 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. This variant has not been reported in large, multi-ethnic general populations. (http://gnomad.broadinstitute.org) This variant has been identified in at least one individual with clinical features associated with this gene. This variant appears to segregate with disease associated with this gene in at least one family.
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel RCV005255549 SCV005909190 likely pathogenic Macular dystrophy with or without extraocular features 2024-12-17 criteria provided, single submitter research This change likely results in a nonsense-mediated mRNA decay. It is not present in gnomAD v2.1.1 and was previously observed in individuals with complicated spastic paraplegia (reported in ClinVar). It was identified in an affected individual with macular dystrophy, without extraocular features. This variant was classified as Likely pathogenic based on ACMG criteria: PVS1_vstrong, PM2_mod.
OMIM RCV000000012 SCV000020155 pathogenic Hereditary spastic paraplegia 48 2010-06-29 no assertion criteria provided literature only

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