ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.905A>C (p.Asn302Thr)

dbSNP: rs748516669
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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 RCV000805969 SCV000945946 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2022-07-02 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 650756). This variant has not been reported in the literature in individuals affected with DCLRE1C-related conditions. This variant is present in population databases (rs748516669, gnomAD 0.0009%). This sequence change replaces asparagine, which is neutral and polar, with threonine, which is neutral and polar, at codon 302 of the DCLRE1C protein (p.Asn302Thr).
Natera, Inc. RCV001825597 SCV002080351 uncertain significance Athabaskan severe combined immunodeficiency 2021-05-04 no assertion criteria provided clinical testing

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