ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1422-1G>T

dbSNP: rs1555472296
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671552 SCV000796537 likely pathogenic Tay-Sachs disease 2017-12-24 criteria provided, single submitter clinical testing
Invitae RCV000671552 SCV004432648 pathogenic Tay-Sachs disease 2023-05-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 555688). Disruption of this splice site has been observed in individual(s) with hexosaminidase A deficiency (PMID: 22789865). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 12 of the HEXA gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site 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).

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