ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1052T>C (p.Val351Ala)

gnomAD frequency: 0.00001  dbSNP: rs1046572671
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001875751 SCV002156542 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2023-08-04 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1388107). 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 valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 351 of the DCLRE1C protein (p.Val351Ala). 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.

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