ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.586C>T (p.Arg196Trp)

gnomAD frequency: 0.00001  dbSNP: rs766699328
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699037 SCV000827731 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2022-03-07 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 196 of the DCLRE1C protein (p.Arg196Trp). This variant is present in population databases (rs766699328, gnomAD 0.02%). 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: 576525). 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"). 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.
Natera, Inc. RCV001830540 SCV002082504 uncertain significance Athabaskan severe combined immunodeficiency 2020-06-12 no assertion criteria provided clinical testing

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