ClinVar Miner

Submissions for variant NM_015215.4(CAMTA1):c.2639G>A (p.Trp880Ter)

dbSNP: rs1576691273
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986228 SCV001135160 pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002549659 SCV003215676 pathogenic not provided 2022-06-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 801430). This variant has not been reported in the literature in individuals affected with CAMTA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp880*) in the CAMTA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CAMTA1 are known to be pathogenic (PMID: 22693284).

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