ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2842C>T (p.Arg948Cys)

gnomAD frequency: 0.00001  dbSNP: rs16978975
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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 RCV001320295 SCV001511075 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2022-02-04 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. 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 not expected to disrupt CACNA1A protein function. ClinVar contains an entry for this variant (Variation ID: 1020680). This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 949 of the CACNA1A protein (p.Arg949Cys).
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001732126 SCV001984097 uncertain significance Developmental and epileptic encephalopathy, 42 2020-03-24 criteria provided, single submitter clinical testing

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