ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.1240A>T (p.Lys414Ter)

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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. RCV002309962 SCV002604212 likely pathogenic Sandhoff disease 2022-02-25 criteria provided, single submitter clinical testing NM_000521.3(HEXB):c.1240A>T(K414*) is expected to be pathogenic in the context of Sandhoff disease. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in HEXB, 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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