ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.1492C>T (p.Arg498Cys)

gnomAD frequency: 0.00004  dbSNP: rs144624027
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812278 SCV001470803 uncertain significance not provided 2019-09-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004967949 SCV005505394 uncertain significance Inborn genetic diseases 2024-10-25 criteria provided, single submitter clinical testing The c.1492C>T (p.R498C) alteration is located in exon 11 (coding exon 11) of the SPTB gene. This alteration results from a C to T substitution at nucleotide position 1492, causing the arginine (R) at amino acid position 498 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003898268 SCV004710755 uncertain significance SPTB-related disorder 2023-11-29 no assertion criteria provided clinical testing The SPTB c.1492C>T variant is predicted to result in the amino acid substitution p.Arg498Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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