ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.766G>T (p.Glu256Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002306612 SCV002602641 likely pathogenic Tay-Sachs disease 2022-01-24 criteria provided, single submitter clinical testing NM_000520.4(HEXA):c.766G>T(E256*) is expected to be pathogenic in the context of hexosaminidase A deficiency. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in HEXA, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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