ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.623T>A (p.Met208Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV001093712 SCV001190518 uncertain significance Familial hypoplastic, glomerulocystic kidney 2020-03-18 criteria provided, single submitter clinical testing A heterozygous missense variation in exon 3 of the GATA4 gene that results in the amino acid substitution of Lysine for Methionine at codon 207 was detected. The observed variant c.620T>A (p.Met207Lys) has not been reported in the 1000 genomes and ExAC databases. Mutations in the GATA4 gene are associated with neonatal and childhood-onset diabetes (Shaw-Smith C. et al 2014). The in silico prediction of the variant is damaging by SIFT and MutationTaster2. The reference codon is conserved across mammals. In summary, the variant meets our criteria to be classed as a variant of unknown significance.

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