ClinVar Miner

Submissions for variant NM_005413.4(SIX3):c.425del (p.Thr142fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002819396 SCV003200583 pathogenic Holoprosencephaly 2 2022-05-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SIX3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr142Argfs*109) in the SIX3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SIX3 are known to be pathogenic (PMID: 18791198).

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