Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Foundation for Research in Genetics and Endocrinology, |
RCV001009624 | SCV001161670 | likely pathogenic | Intellectual disability, X-linked, syndromic, 35 | 2020-01-15 | criteria provided, single submitter | clinical testing | A heterozygous missense variation in exon 7 of the RPL10 gene that results in the amino acid substitution of Trptophan for Arginine at codon 189 was detected. The observed variant c.565C>T (p.Arg189Trp) has not been reported in the 1000 genomes and ExAC databases. The in silico prediction of the variant is disease causing by MutationTaster2, SIFT and FATHMM. In summary, the variant meets our criteria to be classified as likely pathogenic. |