ClinVar Miner

Submissions for variant NM_001388492.1(HTT):c.54GCA[40] (p.Gln18_Gln38dup)

dbSNP: rs71180116
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV002251189 SCV002521683 likely pathogenic Huntington disease 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Inframe insertion variant (CAG repeat expansion). The variant has been reported to be associated with HTT related disorder (PMID: 25356969, ClinVar ID: VCV000031916). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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