ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1565T>C (p.Phe522Ser)

gnomAD frequency: 0.00002  dbSNP: rs1482857000
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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 RCV001207215 SCV001378559 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2022-02-24 criteria provided, single submitter clinical testing 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. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 938066). This variant has not been reported in the literature in individuals affected with DCLRE1C-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 522 of the DCLRE1C protein (p.Phe522Ser).

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