ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2060G>A (p.Arg687His) (rs144420242)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494449 SCV000581738 uncertain significance not provided 2017-05-02 criteria provided, single submitter clinical testing The R687H variant has not been published in association with a skeletal dysplasia to our knowledge. The R687H variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R687H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret this as a variant of uncertain significance.
Fulgent Genetics,Fulgent Genetics RCV000765772 SCV000897160 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001157022 SCV001318568 uncertain significance Ellis-van Creveld syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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