ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1208A>G (p.His403Arg)

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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 RCV003042720 SCV003331415 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2022-07-02 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 tolerated. This variant has not been reported in the literature in individuals affected with DCLRE1C-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 403 of the DCLRE1C protein (p.His403Arg).
Ambry Genetics RCV003042721 SCV003657031 uncertain significance Inborn genetic diseases 2022-11-10 criteria provided, single submitter clinical testing The c.1208A>G (p.H403R) alteration is located in exon 14 (coding exon 14) of the DCLRE1C gene. This alteration results from a A to G substitution at nucleotide position 1208, causing the histidine (H) at amino acid position 403 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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