ClinVar Miner

Submissions for variant NM_001080414.4(CCDC88C):c.358A>G (p.Ile120Val)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002961463 SCV003686439 uncertain significance Inborn genetic diseases 2020-11-05 criteria provided, single submitter clinical testing The c.358A>G (p.I120V) alteration is located in exon 5 (coding exon 5) of the CCDC88C gene. This alteration results from a A to G substitution at nucleotide position 358, causing the isoleucine (I) at amino acid position 120 to be replaced by a valine (V). Based on data from the Genome Aggregation Database (gnomAD) database, the CCDC88C c.358A>G alteration was observed in 0.04% (104/280508) of total alleles studied, with a frequency of 0.9% (93/10350) in the Ashkenazi Jewish subpopulation. This amino acid position is not well conserved in available vertebrate species. The p.I120V alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003546928 SCV004266704 benign not provided 2024-08-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004553846 SCV004747435 benign CCDC88C-related disorder 2019-07-04 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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