ClinVar Miner

Submissions for variant NM_033159.4(HYAL1):c.133G>T (p.Glu45Ter)

dbSNP: rs1575517577
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000797408 SCV000936962 pathogenic Deficiency of hyaluronoglucosaminidase 2018-11-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in HYAL1 are known to be pathogenic (PMID: 10339581, 21559944). This variant has not been reported in the literature in individuals with HYAL1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu45*) in the HYAL1 gene. It is expected to result in an absent or disrupted protein product.

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