ClinVar Miner

Submissions for variant NM_001286577.2(C2CD3):c.2621T>C (p.Leu874Pro)

gnomAD frequency: 0.00005  dbSNP: rs1036887650
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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 RCV002574491 SCV003487464 uncertain significance not provided 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 874 of the C2CD3 protein (p.Leu874Pro). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with C2CD3-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt C2CD3 protein function. 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 RCV004073354 SCV004917033 uncertain significance Inborn genetic diseases 2023-11-03 criteria provided, single submitter clinical testing The c.2621T>C (p.L874P) alteration is located in exon 15 (coding exon 15) of the C2CD3 gene. This alteration results from a T to C substitution at nucleotide position 2621, causing the leucine (L) at amino acid position 874 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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