ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1492G>A (p.Glu498Lys)

dbSNP: rs372597855
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001048564 SCV001212577 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2022-02-10 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 498 of the DCLRE1C protein (p.Glu498Lys). This variant is not present in population databases (gnomAD no frequency). 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: 845493). 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. 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. RCV001275798 SCV001461359 uncertain significance Athabaskan severe combined immunodeficiency 2020-03-11 no assertion criteria provided clinical testing

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