ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.6385C>T (p.Arg2129Trp)

gnomAD frequency: 0.00016  dbSNP: rs556784868
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001968974 SCV002249055 benign not provided 2022-12-06 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001968974 SCV003825765 uncertain significance not provided 2021-07-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004044649 SCV004957140 uncertain significance Inborn genetic diseases 2021-10-08 criteria provided, single submitter clinical testing The c.6385C>T (p.R2129W) alteration is located in exon 32 (coding exon 31) of the SPTBN2 gene. This alteration results from a C to T substitution at nucleotide position 6385, causing the arginine (R) at amino acid position 2129 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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