ClinVar Miner

Submissions for variant NM_020999.4(NEUROG3):c.371C>G (p.Thr124Arg)

dbSNP: rs2133227010
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University RCV001789608 SCV002029230 pathogenic Congenital malabsorptive diarrhea 4 criteria provided, single submitter clinical testing The homozygous missense variant, c.371C>G (p.Thr124Arg), in the NEUROG3 gene was identified in patient with congenital malabsorptive diarrhea and IDDM. The parents are consanguineous and possessed the heterozygous variant. Homozygous and heterozygous variants in NEUROG3 were previously reported in an autosomal recessive congenital malabsorptive diarrhea (J Wang 2006, O Rubio-Cabezas 2011). This variant was classified as pathogenic based on ACMG guidelines.

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