ClinVar Miner

Submissions for variant NM_016122.3(CEP83):c.1232T>C (p.Met411Thr)

gnomAD frequency: 0.00216  dbSNP: rs199617764
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000946280 SCV001092399 likely benign Nephronophthisis 18 2024-01-17 criteria provided, single submitter clinical testing
GeneDx RCV001805942 SCV002050438 uncertain significance not provided 2021-12-23 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 RCV003169457 SCV003873276 uncertain significance Inborn genetic diseases 2023-02-16 criteria provided, single submitter clinical testing The c.1232T>C (p.M411T) alteration is located in exon 11 (coding exon 9) of the CEP83 gene. This alteration results from a T to C substitution at nucleotide position 1232, causing the methionine (M) at amino acid position 411 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003925866 SCV004738112 likely benign CEP83-related condition 2020-01-10 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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