ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.1563_1573del (p.Met522fs)

dbSNP: rs1749812910
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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 RCV001378417 SCV001575980 pathogenic Sandhoff disease 2023-04-16 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with Sandhoff disease (PMID: 26582265). ClinVar contains an entry for this variant (Variation ID: 1067213). This variant disrupts a region of the HEXB protein in which other variant(s) (p.Cys534) have been determined to be pathogenic (PMID: 29448188, 30075786). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Met522Leufs*2) in the HEXB gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 35 amino acid(s) of the HEXB protein.
Fulgent Genetics, Fulgent Genetics RCV001378417 SCV005666654 likely pathogenic Sandhoff disease 2024-04-23 criteria provided, single submitter clinical testing

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