ClinVar Miner

Submissions for variant NM_020771.4(HACE1):c.2242C>T (p.Arg748Ter)

dbSNP: rs869025281
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578801 SCV000681014 pathogenic not provided 2023-08-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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; This variant is associated with the following publications: (PMID: 36553453, 26424145)
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli RCV000207215 SCV002577709 pathogenic Spastic paraplegia-severe developmental delay-epilepsy syndrome 2022-10-04 criteria provided, single submitter clinical testing PVS1;PM2_supporting;PM3
Labcorp Genetics (formerly Invitae), Labcorp RCV000578801 SCV004294644 pathogenic not provided 2023-01-03 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg748*) in the HACE1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HACE1 are known to be pathogenic (PMID: 26424145, 26437029). This premature translational stop signal has been observed in individual(s) with HACE1-related disease (PMID: 26424145). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 221290). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000207215 SCV000262621 pathogenic Spastic paraplegia-severe developmental delay-epilepsy syndrome 2016-02-04 no assertion criteria provided literature only

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