ClinVar Miner

Submissions for variant NM_033159.4(HYAL1):c.81del (p.Asn29fs)

dbSNP: rs781974681
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001962902 SCV002236245 pathogenic Deficiency of hyaluronoglucosaminidase 2023-02-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1454959). This variant has not been reported in the literature in individuals affected with HYAL1-related conditions. This variant is present in population databases (rs781974681, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Asn29Thrfs*31) in the HYAL1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HYAL1 are known to be pathogenic (PMID: 10339581, 21559944).
Fulgent Genetics, Fulgent Genetics RCV001962902 SCV005662609 likely pathogenic Deficiency of hyaluronoglucosaminidase 2024-02-23 criteria provided, single submitter clinical testing

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