ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1885C>T (p.His629Tyr)

gnomAD frequency: 0.00001  dbSNP: rs768407082
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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 RCV001052915 SCV001217150 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2022-08-21 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 629 of the DCLRE1C protein (p.His629Tyr). This variant is present in population databases (rs768407082, gnomAD 0.003%). 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: 849034). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The tyrosine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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