ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6162C>A (p.Asp2054Glu)

gnomAD frequency: 0.00001  dbSNP: rs774164327
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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 RCV001041789 SCV001205427 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-01-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002552503 SCV003584785 uncertain significance Inborn genetic diseases 2021-09-27 criteria provided, single submitter clinical testing The c.6165C>A (p.D2055E) alteration is located in exon 42 (coding exon 42) of the CACNA1A gene. This alteration results from a C to A substitution at nucleotide position 6165, causing the aspartic acid (D) at amino acid position 2055 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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