ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.2331C>T (p.His777=) (rs1057524835)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434244 SCV000536579 uncertain significance not provided 2017-01-25 criteria provided, single submitter clinical testing The c.2331 C>T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was identified as a confirmed de novo variant in an individual referred for testing at GeneDx. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.2331 C>T substitution results in a synonymous amino acid substitution, H777H, which may impact splicing. However, in-silico analyses, including splice predictors and evolutionary conservation, support that this variant does not alter protein structure/function. In the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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