ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.235T>G (p.Phe79Val)

dbSNP: rs2145192231
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001897424 SCV002157341 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2022-07-25 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1382117). This missense change has been observed in individual(s) with clinical features of CACNA1A-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 79 of the CACNA1A protein (p.Phe79Val).

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