ClinVar Miner

Submissions for variant NM_000434.4(NEU1):c.352+1G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004720631 SCV005329371 likely pathogenic Sialidosis type 2 2023-05-20 criteria provided, single submitter clinical testing The splice donor c.352+1G>T variant in the NEU1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is absent in gnomAD Exomes. The variant affects the GT donor splice site downstream of exon 2. Loss of function variants have been previously reported to be disease causing. The Splice AI tool predicts the variant to be damaging. For these reasons, this variant has been classified as Likely Pathogenic.

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