ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5060C>T (p.Ser1687Phe)

dbSNP: rs1568447557
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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 RCV000706124 SCV000835156 likely pathogenic Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-08-24 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 582131). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CACNA1A protein function. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This missense change has been observed in individual(s) with Developmental and epileptic encephalopathy (Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 1688 of the CACNA1A protein (p.Ser1688Phe).

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