ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.703C>T (p.His235Tyr)

dbSNP: rs1554035822
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001269215 SCV001448523 likely pathogenic Sandhoff disease 2020-11-10 criteria provided, single submitter clinical testing Variant summary: HEXB c.703C>T (p.His235Tyr) results in a conservative amino acid change located in the Glycoside hydrolase family 20, catalytic domain of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251384 control chromosomes. c.703C>T has been reported in the literature in at least one individual affected with the motor neuron disease phenotype (Yamada_2013). At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in <10% of normal activity (Yamada_2013). No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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