ClinVar Miner

Submissions for variant NM_001256789.3(CACNA1F):c.5332C>T (p.Arg1778Cys)

gnomAD frequency: 0.00002  dbSNP: rs781892709
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001295812 SCV001484758 uncertain significance not provided 2023-05-07 criteria provided, single submitter clinical testing This variant is present in population databases (rs781892709, gnomAD 0.004%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1789 of the CACNA1F protein (p.Arg1789Cys). This variant has not been reported in the literature in individuals affected with CACNA1F-related conditions. 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 999775).
CeGaT Center for Human Genetics Tuebingen RCV001295812 SCV004166305 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing CACNA1F: BP4, BP5

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