ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.2029G>A (p.Gly677Ser)

gnomAD frequency: 0.00002  dbSNP: rs754829084
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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 RCV000704885 SCV000833857 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 677 of the DCLRE1C protein (p.Gly677Ser). This variant is present in population databases (rs754829084, gnomAD 0.002%). 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: 581143). 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: "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. RCV001835930 SCV002091332 uncertain significance Athabaskan severe combined immunodeficiency 2021-08-24 no assertion criteria provided clinical testing

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