ClinVar Miner

Submissions for variant NM_000434.4(NEU1):c.114_115del (p.Leu40fs)

dbSNP: rs754405067
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503401 SCV000595966 pathogenic Sialidosis 2016-07-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001067364 SCV001232422 pathogenic not provided 2019-04-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NEU1 are known to be pathogenic (PMID: 11063730, 14517945). This variant has not been reported in the literature in individuals with NEU1-related conditions. ClinVar contains an entry for this variant (Variation ID: 435974). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Leu40Glyfs*8) in the NEU1 gene. It is expected to result in an absent or disrupted protein product.

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