ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2020T>C (p.Tyr674His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002826694 SCV003599592 uncertain significance Inborn genetic diseases 2022-01-26 criteria provided, single submitter clinical testing The c.2023T>C (p.Y675H) alteration is located in exon 16 (coding exon 16) of the CACNA1A gene. This alteration results from a T to C substitution at nucleotide position 2023, causing the tyrosine (Y) at amino acid position 675 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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