ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1739C>T (p.Pro580Leu)

gnomAD frequency: 0.00001  dbSNP: rs780103215
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224754 SCV000281222 uncertain significance not provided 2015-06-02 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001041365 SCV001204976 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2022-10-04 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 580 of the DCLRE1C protein (p.Pro580Leu). This variant is present in population databases (rs780103215, 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: 235552). 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.
Ambry Genetics RCV002516232 SCV003674653 uncertain significance Inborn genetic diseases 2022-12-15 criteria provided, single submitter clinical testing The c.1739C>T (p.P580L) alteration is located in exon 14 (coding exon 14) of the DCLRE1C gene. This alteration results from a C to T substitution at nucleotide position 1739, causing the proline (P) at amino acid position 580 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001272773 SCV001455074 uncertain significance Histiocytic medullary reticulosis 2020-09-16 no assertion criteria provided clinical testing

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