ClinVar Miner

Submissions for variant NM_000434.4(NEU1):c.69G>A (p.Trp23Ter)

dbSNP: rs104893986
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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 RCV003555901 SCV004293270 pathogenic not provided 2023-10-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp23*) in the NEU1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NEU1 are known to be pathogenic (PMID: 11063730, 14517945). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with sialidosis (PMID: 14695530). ClinVar contains an entry for this variant (Variation ID: 2458). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002562 SCV000022720 pathogenic Sialidosis type 2 2004-01-01 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003964788 SCV004779163 pathogenic NEU1-related disorder 2024-02-29 no assertion criteria provided clinical testing The NEU1 c.69G>A variant is predicted to result in premature protein termination (p.Trp23*). This variant has been reported in the homozygous state in two unrelated individuals with type II sialidosis (Patients C and D, Pattison et al. 2004. PubMed ID: 14695530). Of note, these patients had clinically severe phenotypes and both passed away by 2-3 months of age. This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in NEU1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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