ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4670G>A (p.Arg1557His)

gnomAD frequency: 0.00001  dbSNP: rs755172189
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000653337 SCV000775216 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2022-01-15 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 542832). This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions. This variant is present in population databases (rs755172189, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1558 of the CACNA1A protein (p.Arg1558His).
Ambry Genetics RCV002317901 SCV000851496 uncertain significance Inborn genetic diseases 2019-01-31 criteria provided, single submitter clinical testing The p.R1558H variant (also known as c.4673G>A), located in coding exon 29 of the CACNA1A gene, results from a G to A substitution at nucleotide position 4673. The arginine at codon 1558 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002507126 SCV002816175 uncertain significance Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 2022-01-05 criteria provided, single submitter clinical testing

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