ClinVar Miner

Submissions for variant NM_001286577.2(C2CD3):c.4097C>T (p.Ser1366Leu)

gnomAD frequency: 0.00022  dbSNP: rs144630140
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001773308 SCV002001757 uncertain significance not provided 2020-01-27 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001773308 SCV003455611 benign not provided 2024-11-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298989 SCV004009129 uncertain significance Inborn genetic diseases 2023-04-24 criteria provided, single submitter clinical testing The c.4097C>T (p.S1366L) alteration is located in exon 23 (coding exon 23) of the C2CD3 gene. This alteration results from a C to T substitution at nucleotide position 4097, causing the serine (S) at amino acid position 1366 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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