ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.572G>A (p.Arg191Gln)

gnomAD frequency: 0.00003  dbSNP: rs528699445
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001215552 SCV001387303 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 191 of the DCLRE1C protein (p.Arg191Gln). This variant is present in population databases (rs528699445, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with DCLRE1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 945025). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DCLRE1C protein function with a negative predictive value of 80%. 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.
Natera, Inc. RCV001828716 SCV002084836 uncertain significance Athabaskan severe combined immunodeficiency 2021-01-07 no assertion criteria provided clinical testing

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