ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.34C>T (p.Pro12Ser)

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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 RCV002957713 SCV004810416 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2024-04-01 reviewed by expert panel curation The c.34C>T (NM_001033855.3) variant in DCLRE1C is a missense variant predicted to cause substitution of Proline by Serine at amino acid 12 (p.Pro12Ser). 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. In summary, 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 RCV002957713 SCV003272596 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2022-03-04 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 12 of the DCLRE1C protein (p.Pro12Ser). This variant is not present in population databases (gnomAD 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 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.

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