ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4173_4174insATCTTC (p.Ala1391_Val1392insIlePhe)

dbSNP: rs1600195777
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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 RCV000816137 SCV000956630 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2019-02-19 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has not been reported in the literature in individuals with CACNA1A-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.4176_4177insATCTTC, results in the insertion of 2 amino acid(s) to the CACNA1A protein (p.Ala1392_Val1393insIlePhe), but otherwise preserves the integrity of the reading frame.
GeneDx RCV001840735 SCV002099636 uncertain significance not provided 2022-02-23 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame insertion of 2 amino acids in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge

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