ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1627A>G (p.Ile543Val)

gnomAD frequency: 0.00006  dbSNP: rs777250271
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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 RCV001244048 SCV001417242 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 543 of the DCLRE1C protein (p.Ile543Val). This variant is present in population databases (rs777250271, gnomAD 0.007%). 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: 968823). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Fulgent Genetics, Fulgent Genetics RCV002480821 SCV002791463 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency; Histiocytic medullary reticulosis 2021-07-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277653 SCV001464617 uncertain significance Histiocytic medullary reticulosis 2020-04-11 no assertion criteria provided clinical testing

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