Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| New York Genome Center | RCV001839182 | SCV002099123 | uncertain significance | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | 2021-04-09 | criteria provided, single submitter | clinical testing | The inherited heterozygous missense variant, c.1798C>T (p.Arg600Cys), in the SPTBN4 gene has not been reported in affected individuals in the literature. The variant has 0.0001971 allele frequency (30 out of 152,212 heterozygous alleles, no homozygotes)in the gnomAD database indicating it is not a common benign allele in the populations represented in that database. In silico tools provide conflicting predictions about potential pathogenicity of this variant. Based on the available evidence, the inherited c.1798C>T (p.Arg600Cys) variant in the SPTBN4 gene is reported as a variant of uncertain significance. |
| Ambry Genetics | RCV004041036 | SCV004957496 | uncertain significance | Inborn genetic diseases | 2024-01-03 | criteria provided, single submitter | clinical testing | The c.1798C>T (p.R600C) alteration is located in exon 13 (coding exon 12) of the SPTBN4 gene. This alteration results from a C to T substitution at nucleotide position 1798, causing the arginine (R) at amino acid position 600 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |