ClinVar Miner

Submissions for variant NM_016929.5(CLIC5):c.696A>T (p.Ala232=)

gnomAD frequency: 0.00025  dbSNP: rs187897856
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825058 SCV000966274 benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Ala391Ala in exon 6 of CLIC5: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.54% (47/8632) of E ast Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs187897856).
GeneDx RCV001595043 SCV001829829 benign not provided 2019-08-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001595043 SCV003253685 benign not provided 2023-10-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004758056 SCV005362058 likely benign CLIC5-related disorder 2024-06-03 no assertion criteria provided 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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