ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1421G>A (p.Trp474Ter)

dbSNP: rs762374961
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409611 SCV000486685 likely pathogenic Tay-Sachs disease 2016-07-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000409611 SCV004297639 pathogenic Tay-Sachs disease 2023-06-13 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with lysosomal storage disorders (PMID: 23852624). ClinVar contains an entry for this variant (Variation ID: 371169). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.Trp474*) in the HEXA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HEXA are known to be pathogenic (PMID: 1833974, 8490625).
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000409611 SCV000494226 pathogenic Tay-Sachs disease 2012-07-07 no assertion criteria provided research

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