ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.1489A>C (p.Asn497His)

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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 RCV003448834 SCV004176603 uncertain significance Sandhoff disease 2023-03-01 criteria provided, single submitter clinical testing The missense variant c.1489A>C(p.Asn497His) in HEXB gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Asparagine at position 497 is changed to a Histidine changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damaging by SIFT.The amino acid change p.Asn497His in HEXB is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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