ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1079G>A (p.Arg360Gln)

gnomAD frequency: 0.00002  dbSNP: rs377694988
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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 RCV002537759 SCV003489804 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 360 of the DCLRE1C protein (p.Arg360Gln). This variant is present in population databases (rs377694988, gnomAD 0.03%). 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: 989761). 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: "Possibly 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.
Ambry Genetics RCV003346421 SCV004058234 uncertain significance Inborn genetic diseases 2023-09-14 criteria provided, single submitter clinical testing The c.1079G>A (p.R360Q) alteration is located in exon 13 (coding exon 13) of the DCLRE1C gene. This alteration results from a G to A substitution at nucleotide position 1079, causing the arginine (R) at amino acid position 360 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001277655 SCV001464619 uncertain significance Histiocytic medullary reticulosis 2020-04-13 no assertion criteria provided clinical testing

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