ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.672+1G>A (rs387906311)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412214 SCV000486275 likely pathogenic Tay-Sachs disease 2016-05-10 criteria provided, single submitter clinical testing
GeneDx RCV000432194 SCV000521179 pathogenic not provided 2016-12-20 criteria provided, single submitter clinical testing The c.672+1 G>A splice site variant in the HEXA gene has been previously reported in a patient with Tay-Sachs disease in whom a second variant in HEXA was not identified (Akli et al. 1993). cDNA and Northern blot analyses found that c.672+1 G>A results in skipping of exon 6 and a 50% reduction in HEXA mRNA levels (Akli et al. 1993). The c.672+1 G> variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.672+1 G> to be a pathogenic variant.
OMIM RCV000004134 SCV000024300 pathogenic Tay-sachs disease, juvenile/adult 1993-01-01 no assertion criteria provided literature only

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