ClinVar Miner

Submissions for variant NM_015278.5(SASH1):c.1574C>T (p.Thr525Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV003152824 SCV003841268 likely pathogenic Dyschromatosis universalis hereditaria 1 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. The variant is located in a mutational hot spot and/or well-established functional domain in which established pathogenic variants have been reported. Missense changes are a common disease-causing mechanism. A different missense change at the same codon (p.Thr525Arg) has been reported to be associated with SASH1 related disorder (PMID: 32981204). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.

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