ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1952T>C (p.Phe651Ser)

gnomAD frequency: 0.00011  dbSNP: rs144641461
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001244973 SCV001418230 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2022-04-23 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 651 of the DCLRE1C protein (p.Phe651Ser). This variant is present in population databases (rs144641461, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with DCLRE1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 969588). 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002227257 SCV002506230 uncertain significance not provided 2022-02-08 criteria provided, single submitter clinical testing The DCLRE1C c.1952T>C; p.Phe651Ser variant (rs144641461), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 969588). This variant is found in the general population with an overall allele frequency of 0.0057% (16/282548 alleles) in the Genome Aggregation Database. The phenylalanine at codon 651 is highly conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.213). Due to limited information, the clinical significance of this variant is uncertain at this time.
Natera, Inc. RCV001829943 SCV002090065 uncertain significance Athabaskan severe combined immunodeficiency 2020-10-21 no assertion criteria provided clinical testing

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