ClinVar Miner

Submissions for variant NM_000718.4(CACNA1B):c.6260C>T (p.Pro2087Leu)

gnomAD frequency: 0.00019  dbSNP: rs200308291
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV004799410 SCV001432889 uncertain significance Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements 2022-01-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001458718 SCV001662544 likely benign not provided 2025-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035362 SCV003716121 uncertain significance not specified 2024-12-12 criteria provided, single submitter clinical testing The c.6260C>T (p.P2087L) alteration is located in exon 46 (coding exon 46) of the CACNA1B gene. This alteration results from a C to T substitution at nucleotide position 6260, causing the proline (P) at amino acid position 2087 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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