ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1648G>C (p.Gly550Arg)

dbSNP: rs1588892551
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000791691 SCV000930951 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2018-07-02 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with DCLRE1C-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 550 of the DCLRE1C protein (p.Gly550Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine.
GenomeConnect - Invitae Patient Insights Network RCV000791691 SCV004228941 not provided Severe combined immunodeficiency due to DCLRE1C deficiency no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 07-12-2018 by Lab Invitae . GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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