ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.50A>G (p.Asp17Gly)

dbSNP: rs1842831150
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen RCV001314842 SCV004810423 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2024-04-01 reviewed by expert panel curation The c.50A>G (NM_001033855.3) variant in DCLRE1C is a missense variant predicted to cause the substitution of Aspartic Acid by Glycine at amino acid 17 (p.Asp17Gly). This variant is absent from gnomAD v4 (PM2_Supporting). To our knowledge, this variant has not been reported in the literature in individuals affected with DCLRE1C-related conditions or in functional studies. Due to insufficient evidence, this variant is classified as a variant of uncertain significance for autosomal recessive severe combined immunodeficiency due to DCLRE1C deficiency, based on ACMG/AMP criteria applied, as specified by the ClinGen SCID VCEP (specification version 1.0): PM2_Supporting.
Labcorp Genetics (formerly Invitae), Labcorp RCV001314842 SCV001505392 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2020-02-25 criteria provided, single submitter clinical testing 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This variant has not been reported in the literature in individuals with DCLRE1C-related conditions. This sequence change replaces aspartic acid with glycine at codon 17 of the DCLRE1C protein (p.Asp17Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is not present in population databases (ExAC no frequency).

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