ClinVar Miner

Submissions for variant NM_000434.4(NEU1):c.1170C>G (p.Tyr390Ter)

dbSNP: rs746607723
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Lab, University of Southampton RCV000202594 SCV000257529 pathogenic Sialidosis type 2; Non-immune hydrops fetalis 2014-06-22 no assertion criteria provided clinical testing The gain of stop codon mutation at (Chr6: 31,827,574- 31,827,574), interferes the full length production of neuraminidase 1 and essentially hampers the functionality of the final product. Presence of heterozygous mutation at two loci on the NEU1 implies a “Compound Heterozygous” status for the patient

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