ClinVar Miner

Submissions for variant NM_001286577.2(C2CD3):c.3196C>T (p.Leu1066Phe)

gnomAD frequency: 0.00001  dbSNP: rs187512156
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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 RCV002041341 SCV002110491 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing
GeneDx RCV002041341 SCV002757403 uncertain significance not provided 2022-05-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002545300 SCV003704815 uncertain significance Inborn genetic diseases 2022-01-18 criteria provided, single submitter clinical testing The c.3196C>T (p.L1066F) alteration is located in exon 18 (coding exon 18) of the C2CD3 gene. This alteration results from a C to T substitution at nucleotide position 3196, causing the leucine (L) at amino acid position 1066 to be replaced by a phenylalanine (F). The in silico prediction for this alteration is inconclusive. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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