ClinVar Miner

Submissions for variant NM_020771.4(HACE1):c.2487TCT[1] (p.Leu832del)

dbSNP: rs869025283
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003325305 SCV004294643 uncertain significance not provided 2023-03-11 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 221292). This variant has been observed in individual(s) with clinical features of hereditary spastic paraplegia (PMID: 26437029). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant, c.2490_2492del, results in the deletion of 1 amino acid(s) of the HACE1 protein (p.Leu832del), but otherwise preserves the integrity of the reading frame.
OMIM RCV000207174 SCV000262623 pathogenic Spastic paraplegia-severe developmental delay-epilepsy syndrome 2016-02-04 no assertion criteria provided literature only
Molecular Genetics laboratory, Necker Hospital RCV003325305 SCV004031399 pathogenic not provided 2021-05-31 no assertion criteria provided clinical testing

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