ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.317A>T (p.Glu106Val)

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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 RCV002280808 SCV002564664 uncertain significance Microcephaly and chorioretinopathy 1 2022-01-08 criteria provided, single submitter clinical testing A heterozygous missense variation in exon 1 of the TUBGCP6 gene (chr22:g.50244143T>A; Depth: 462x) that results in the amino acid substitution of Valine for Glutamic Acid at codon 106 (p.Glu106Val; ENST00000248846.10) was detected. The p.Glu106Val variant has not been reported in the 1000 genomes and gnomAD databases. The in silico predictions of the variant are probably damaging by PolyPhen-2 (HumDiv) and damaging by SIFT. The reference codon is conserved across species.

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