ClinVar Miner

Submissions for variant NM_006459.4(ERLIN1):c.763C>T (p.Arg255Ter)

gnomAD frequency: 0.00001  dbSNP: rs876657413
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000211709 SCV004468764 uncertain significance Hereditary spastic paraplegia 62 2023-02-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg255*) in the ERLIN1 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in ERLIN1 cause disease. This variant is present in population databases (no rsID available, gnomAD 0.007%). This premature translational stop signal has been observed in individuals with hereditary spastic paraplegia (PMID: 24482476; Invitae). ClinVar contains an entry for this variant (Variation ID: 226426). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV000211709 SCV000268706 pathogenic Hereditary spastic paraplegia 62 2014-01-31 no assertion criteria provided literature only

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