ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1967C>T (p.Thr656Ile)

gnomAD frequency: 0.00028  dbSNP: rs141357439
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000814634 SCV000955049 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2022-08-21 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 656 of the DCLRE1C protein (p.Thr656Ile). This variant is present in population databases (rs141357439, gnomAD 0.1%). 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: 657924). 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: "Deleterious"; 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.
Natera, Inc. RCV001272772 SCV001455072 uncertain significance Histiocytic medullary reticulosis 2020-09-16 no assertion criteria provided clinical testing

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