ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6140C>T (p.Pro2047Leu)

gnomAD frequency: 0.00002  dbSNP: rs539347883
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001066054 SCV001231047 benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-04-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002554480 SCV003744895 uncertain significance Inborn genetic diseases 2022-02-10 criteria provided, single submitter clinical testing The c.6143C>T (p.P2048L) alteration is located in exon 42 (coding exon 42) of the CACNA1A gene. This alteration results from a C to T substitution at nucleotide position 6143, causing the proline (P) at amino acid position 2048 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003222214 SCV003918074 uncertain significance not provided 2023-03-01 criteria provided, single submitter clinical testing CACNA1A: PP2

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