ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.3478C>T (p.Arg1160Cys)

gnomAD frequency: 0.00001  dbSNP: rs765222922
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV002261484 SCV002541198 uncertain significance not provided 2021-10-05 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002261484 SCV003822723 uncertain significance not provided 2022-08-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV003365719 SCV004065261 uncertain significance Inborn genetic diseases 2023-07-17 criteria provided, single submitter clinical testing The c.3478C>T (p.R1160C) alteration is located in exon 15 (coding exon 15) of the SPTB gene. This alteration results from a C to T substitution at nucleotide position 3478, causing the arginine (R) at amino acid position 1160 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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