ClinVar Miner

Submissions for variant NM_015215.4(CAMTA1):c.718G>A (p.Val240Met)

gnomAD frequency: 0.00005  dbSNP: rs755920468
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330628 SCV001522369 uncertain significance Cerebellar dysfunction with variable cognitive and behavioral abnormalities 2020-02-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003120554 SCV003801104 uncertain significance not specified 2023-01-16 criteria provided, single submitter clinical testing Variant summary: CAMTA1 c.718G>A (p.Val240Met) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 251168 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.718G>A in individuals affected with Nonprogressive Cerebellar Atxia With Intellectual Disability and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV003558810 SCV004300846 uncertain significance not provided 2023-04-24 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 240 of the CAMTA1 protein (p.Val240Met). This variant is present in population databases (rs755920468, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CAMTA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1029370). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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