ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1073+1G>C

dbSNP: rs76173977
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001390151 SCV001591786 pathogenic Tay-Sachs disease 2020-03-14 criteria provided, single submitter clinical testing Experimental studies have shown that this disruption of this splice site affects mRNA splicing (PMID: 1301938, 8444467). For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in HEXA are known to be pathogenic (PMID: 1833974, 8490625). Disruption of this splice site has been observed in individual(s) with Tay-Sachs disease (PMID: 8490625, 1387685, 19858779). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 9 of the HEXA gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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