ClinVar Miner

Submissions for variant NM_005220.3(DLX3):c.534G>C (p.Gln178His)

dbSNP: rs2144182867
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Prosthodontics, Peking University School and Hospital of Stomatology RCV001829278 SCV002074133 pathogenic Tricho-dento-osseous syndrome 2022-02-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV003264110 SCV003973628 likely pathogenic Inborn genetic diseases 2023-06-08 criteria provided, single submitter clinical testing The c.534G>C (p.Q178H) alteration is located in exon 3 (coding exon 3) of the DLX3 gene. This alteration results from a G to C substitution at nucleotide position 534, causing the glutamine (Q) at amino acid position 178 to be replaced by a histidine (H). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This variant segregates in an autosomal dominant fashion in a family with clinical features consistent with trichodontoosseous syndrome (Liu, 2022). Another alteration at the same codon, c.533A>G (p.Q178R), has been reported de novo in an individual with clinical features consistent with trichodontoosseous syndrome (Li, 2015). This amino acid position is highly conserved in available vertebrate species. This alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, this alteration is classified as likely pathogenic.

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