ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.247A>C (p.Ile83Leu)

gnomAD frequency: 0.00003  dbSNP: rs746658739
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000811486 SCV000951754 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2022-08-10 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 83 of the DCLRE1C protein (p.Ile83Leu). This variant is present in population databases (no rsID available, gnomAD 0.007%). 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: 655337). 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 RCV002538099 SCV003731586 uncertain significance Inborn genetic diseases 2022-03-16 criteria provided, single submitter clinical testing The c.247A>C (p.I83L) alteration is located in exon 4 (coding exon 4) of the DCLRE1C gene. This alteration results from a A to C substitution at nucleotide position 247, causing the isoleucine (I) at amino acid position 83 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001830773 SCV002084962 uncertain significance Athabaskan severe combined immunodeficiency 2021-04-14 no assertion criteria provided clinical testing

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