Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center of Genomic medicine, |
RCV000857247 | SCV000999835 | likely pathogenic | De Lange syndrome | 2019-03-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003372893 | SCV004085711 | likely pathogenic | Inborn genetic diseases | 2023-08-14 | criteria provided, single submitter | clinical testing | The c.381C>G (p.S127R) alteration is located in exon 7 (coding exon 7) of the SMC3 gene. This alteration results from a C to G substitution at nucleotide position 381, causing the serine (S) at amino acid position 127 to be replaced by an arginine (R). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. This missense alteration is located in a region that has a low rate of benign missense variation (Lek, 2016; Firth, 2009). The in silico prediction for this alteration is inconclusive. Based on the available evidence, this alteration is classified as likely pathogenic. |