ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.4556T>C (p.Met1519Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004432200 SCV004915909 uncertain significance Inborn genetic diseases 2023-12-22 criteria provided, single submitter clinical testing The c.4556T>C (p.M1519T) alteration is located in exon 32 (coding exon 32) of the CACNA1E gene. This alteration results from a T to C substitution at nucleotide position 4556, causing the methionine (M) at amino acid position 1519 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV005065081 SCV005690193 uncertain significance not provided 2024-08-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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