ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.941C>T (p.Ala314Val)

gnomAD frequency: 0.00001  dbSNP: rs1838083133
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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 RCV001043896 SCV001207665 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 314 of the DCLRE1C protein (p.Ala314Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with DCLRE1C-related conditions. 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. 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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