ClinVar Miner

Submissions for variant NM_015215.4(CAMTA1):c.1618G>A (p.Glu540Lys)

gnomAD frequency: 0.00002  dbSNP: rs200732212
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002227718 SCV002506811 uncertain significance Cerebellar dysfunction with variable cognitive and behavioral abnormalities 2021-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003101300 SCV002934712 uncertain significance not provided 2022-06-13 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with CAMTA1-related conditions. This variant is present in population databases (rs200732212, gnomAD 0.006%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 540 of the CAMTA1 protein (p.Glu540Lys).

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