ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.1654T>C (p.Ser552Pro)

gnomAD frequency: 0.00009  dbSNP: rs527612343
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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 RCV001332287 SCV001524547 uncertain significance Spinocerebellar ataxia type 42 2019-01-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546547 SCV003298523 likely benign not provided 2022-04-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035735 SCV004915064 uncertain significance Inborn genetic diseases 2024-01-02 criteria provided, single submitter clinical testing The c.1654T>C (p.S552P) alteration is located in exon 8 (coding exon 8) of the CACNA1G gene. This alteration results from a T to C substitution at nucleotide position 1654, causing the serine (S) at amino acid position 552 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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