ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.2407A>C (p.Ile803Leu)

gnomAD frequency: 0.00008  dbSNP: rs747028553
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336457 SCV001529846 uncertain significance Spinocerebellar ataxia type 42 2018-03-26 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002546779 SCV003724646 uncertain significance Inborn genetic diseases 2022-07-19 criteria provided, single submitter clinical testing The c.2407A>C (p.I803L) alteration is located in exon 10 (coding exon 10) of the CACNA1G gene. This alteration results from a A to C substitution at nucleotide position 2407, causing the isoleucine (I) at amino acid position 803 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003120564 SCV003786776 likely benign not provided 2022-12-02 criteria provided, single submitter clinical testing

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