ClinVar Miner

Submissions for variant NM_024105.4(ALG12):c.931C>T (p.Arg311Cys) (rs746215829)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432212 SCV000512017 uncertain significance not provided 2018-10-04 criteria provided, single submitter clinical testing The R311C variant has been reported previously, in the compound heterozygous state with another missense variant, in a patient with congenital disorder of glycosylation type Ig (CDG-Ig) (Eklund et al., 2005). Although complementation studies demonstrated that wild-type hALG12 was able to correct the biochemical phenotype in fibroblast cells from the affected individual, functional analysis specifically showing pathogenicity of the R311C variant was not performed and additional studies are needed to validate the functional effect of this specific variant in vivo (Eklund et al., 2005). The R311C variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common variant in these populations. The R311C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is well conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore based on the information available at this time, we interpret R311C as a variant of unclear clinical significance.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000660616 SCV000782734 uncertain significance ALG12-congenital disorder of glycosylation 2017-09-21 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000660616 SCV000896984 uncertain significance ALG12-congenital disorder of glycosylation 2018-10-31 criteria provided, single submitter clinical testing

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