ClinVar Miner

Submissions for variant NM_014588.6(VSX1):c.412G>A (p.Val138Ile)

dbSNP: rs111722263
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breda Genetics srl RCV001200052 SCV001364097 benign Craniofacial anomalies and anterior segment dysgenesis syndrome 2020-04-21 criteria provided, single submitter clinical testing We have detected a heterozygous variant in exon 1 of the VSX1 gene, c.412G>A (p.Val138Ile), rs111722263, reference transcript NM_014588.5. This variant has not been reported in gnomAD, 1000 Genomes, NHLI Exome Sequencing Project (ESP) or ClinVar. The nucleotide position is moderately conserved across 35 mammalian species (GERP RS: 3.18). In silico analysis indicates that the variant might be neutral. Based on the segregation analysis of this variant, we interpret it as benign.

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