ClinVar Miner

Submissions for variant NM_005220.3(DLX3):c.561_562del (p.Tyr188fs)

dbSNP: rs387906406
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001851767 SCV002170721 pathogenic not provided 2021-01-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Tyr188Glnfs*13) in the DLX3 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 100 amino acid(s) of the DLX3 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with DLX3-related disease (PMID: 15666299, 18203197, 18362318, 26762616). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 9073).
OMIM RCV000009640 SCV000029858 pathogenic Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism 2008-02-01 no assertion criteria provided literature only
OMIM RCV000009641 SCV000029859 pathogenic Tricho-dento-osseous syndrome 2008-02-01 no assertion criteria provided literature only

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