ClinVar Miner

Submissions for variant NM_020971.3(SPTBN4):c.2875C>T (p.Arg959Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002670327 SCV003722409 uncertain significance Inborn genetic diseases 2021-01-27 criteria provided, single submitter clinical testing The c.2875C>T (p.R959C) alteration is located in exon 15 (coding exon 14) of the SPTBN4 gene. This alteration results from a C to T substitution at nucleotide position 2875, causing the arginine (R) at amino acid position 959 to be replaced by a cysteine (C). The p.R959C alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
3billion, Medical Genetics RCV004725621 SCV005328938 likely benign Neurodevelopmental disorder with hypotonia, neuropathy, and deafness 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

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