ClinVar Miner

Submissions for variant NM_004977.3(KCNC3):c.1737ACCCCCGCC[1] (p.Pro583_Pro585del)

dbSNP: rs747618525
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990242 SCV001141120 likely benign Spinocerebellar ataxia type 13 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000996984 SCV001152009 likely pathogenic not provided 2019-05-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000996984 SCV002770811 uncertain significance not provided 2023-08-24 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is higher than would generally be expected for pathogenic variants in this gene (http://gnomad.broadinstitute.org). Assessment of experimental evidence suggests this variant results in abnormal protein function. This variant inhibits current inactivation (PMID: 29949095).
Invitae RCV000996984 SCV004509506 pathogenic not provided 2023-04-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this variant affects KCNC3 function (PMID: 29949095). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 803573). This variant has been observed in individuals with spinocerebellar ataxia (PMID: 29949095). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs772002798, gnomAD 0.01%). This variant, c.1746_1754del, results in the deletion of 3 amino acid(s) of the KCNC3 protein (p.Pro583_Pro585del), but otherwise preserves the integrity of the reading frame.
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino RCV003319217 SCV004023214 likely pathogenic Tip-toe gait 2022-10-25 no assertion criteria provided clinical testing

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