ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6550A>G (p.Thr2184Ala)

gnomAD frequency: 0.00002  dbSNP: rs1028538547
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001307476 SCV001496891 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 2185 of the CACNA1A protein (p.Thr2185Ala). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1009917). 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. 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.
Baylor Genetics RCV001328547 SCV001519692 uncertain significance Developmental and epileptic encephalopathy, 42 2019-02-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002543195 SCV003727408 uncertain significance Inborn genetic diseases 2022-10-27 criteria provided, single submitter clinical testing The c.6553A>G (p.T2185A) alteration is located in exon 46 (coding exon 46) of the CACNA1A gene. This alteration results from a A to G substitution at nucleotide position 6553, causing the threonine (T) at amino acid position 2185 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003416180 SCV004137979 uncertain significance not provided 2023-02-01 criteria provided, single submitter clinical testing CACNA1A: PM2, PP2, PP3

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