ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1595T>G (p.Ile532Ser)

gnomAD frequency: 0.00012  dbSNP: rs769134680
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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 RCV001943135 SCV002181456 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2021-09-17 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with serine at codon 532 of the DCLRE1C protein (p.Ile532Ser). The isoleucine residue is moderately conserved and there is a large physicochemical difference between isoleucine and serine. This variant is present in population databases (rs769134680, ExAC 0.001%). This variant has not been reported in the literature in individuals with DCLRE1C-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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