ClinVar Miner

Submissions for variant NM_001128840.3(CACNA1D):c.1105G>A (p.Val369Met)

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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 RCV002683913 SCV003716903 uncertain significance Inborn genetic diseases 2021-06-23 criteria provided, single submitter clinical testing The c.1105G>A (p.V369M) alteration is located in exon 7 (coding exon 7) of the CACNA1D gene. This alteration results from a G to A substitution at nucleotide position 1105, causing the valine (V) at amino acid position 369 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Center for Computational Biology & Bioinformatics, University of California, San Diego RCV004572831 SCV005049949 uncertain significance Meniere disease 2024-06-03 no assertion criteria provided research

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