ClinVar Miner

Submissions for variant NM_015215.4(CAMTA1):c.851G>A (p.Arg284His)

dbSNP: rs767725186
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197287 SCV001367937 uncertain significance Cerebellar dysfunction with variable cognitive and behavioral abnormalities 2019-03-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3.
PreventionGenetics, part of Exact Sciences RCV004548050 SCV004108940 uncertain significance CAMTA1-related disorder 2022-10-26 criteria provided, single submitter clinical testing The CAMTA1 c.851G>A variant is predicted to result in the amino acid substitution p.Arg284His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0054% of alleles in individuals of European (Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-7723458-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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