Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000589900 | SCV000698419 | uncertain significance | not provided | 2017-03-20 | criteria provided, single submitter | clinical testing | Variant summary: The DSP c.1997C>T (p.Thr666Ile) variant involves the alteration of a conserved nucleotide. 2/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant is absent in 121316 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available. |
Ambry Genetics | RCV002420565 | SCV002721756 | uncertain significance | Cardiovascular phenotype | 2022-10-14 | criteria provided, single submitter | clinical testing | The p.T666I variant (also known as c.1997C>T), located in coding exon 15 of the DSP gene, results from a C to T substitution at nucleotide position 1997. The threonine at codon 666 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |