ClinVar Miner

Submissions for variant NM_001286577.2(C2CD3):c.5612T>G (p.Leu1871Arg)

gnomAD frequency: 0.00004  dbSNP: rs766845407
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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 RCV001965662 SCV002244016 likely benign not provided 2024-11-25 criteria provided, single submitter clinical testing
GeneDx RCV001965662 SCV003936760 uncertain significance not provided 2023-01-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004044421 SCV004914556 uncertain significance Inborn genetic diseases 2024-02-28 criteria provided, single submitter clinical testing The c.5612T>G (p.L1871R) alteration is located in exon 29 (coding exon 29) of the C2CD3 gene. This alteration results from a T to G substitution at nucleotide position 5612, causing the leucine (L) at amino acid position 1871 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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