ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.1655A>G (p.Asn552Ser)

gnomAD frequency: 0.00001  dbSNP: rs763927371
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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 RCV001307119 SCV001496517 uncertain significance Sandhoff disease 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 552 of the HEXB protein (p.Asn552Ser). This variant is present in population databases (rs763927371, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with HEXB-related conditions. ClinVar contains an entry for this variant (Variation ID: 1009605). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt HEXB protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001307119 SCV002084959 uncertain significance Sandhoff disease 2021-02-16 no assertion criteria provided clinical testing

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