ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.2045T>A (p.Val682Asp)

gnomAD frequency: 0.00001  dbSNP: rs1033877372
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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 RCV000687745 SCV000815331 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces valine with aspartic acid at codon 682 of the DCLRE1C protein (p.Val682Asp). The valine residue is weakly conserved and there is a large physicochemical difference between valine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with DCLRE1C-related conditions. 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 RCV003380676 SCV004091624 uncertain significance Inborn genetic diseases 2023-08-29 criteria provided, single submitter clinical testing The c.2045T>A (p.V682D) alteration is located in exon 14 (coding exon 14) of the DCLRE1C gene. This alteration results from a T to A substitution at nucleotide position 2045, causing the valine (V) at amino acid position 682 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001829901 SCV002088166 uncertain significance Athabaskan severe combined immunodeficiency 2020-08-28 no assertion criteria provided clinical testing

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