ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.2041G>C (p.Ala681Pro)

gnomAD frequency: 0.00001  dbSNP: rs151259511
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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 RCV001874552 SCV002134178 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2022-06-20 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 681 of the DCLRE1C protein (p.Ala681Pro). This variant is present in population databases (rs151259511, gnomAD 0.002%). 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 RCV004040456 SCV004853504 uncertain significance Inborn genetic diseases 2023-09-23 criteria provided, single submitter clinical testing The c.2041G>C (p.A681P) alteration is located in exon 14 (coding exon 14) of the DCLRE1C gene. This alteration results from a G to C substitution at nucleotide position 2041, causing the alanine (A) at amino acid position 681 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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