ClinVar Miner

Submissions for variant NM_000434.4(NEU1):c.353-2A>G

dbSNP: rs864309513
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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 RCV000202579 SCV000257528 pathogenic Sialidosis type 2; Non-immune hydrops fetalis 2014-06-22 no assertion criteria provided clinical testing The splice site mutation (chr6: 31,829,229 T > C) compromises the recognition of SR-proteins at the 3’ acceptor site and thereby lead to skipping of the exon 3 from the final transcript. Though, due to the heterozygous state of the patient, influence of this mutation might be less prominent

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