ClinVar Miner

Submissions for variant NM_006013.5(RPL10):c.565C>T (p.Arg189Trp) (rs1019534975)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV001009624 SCV001161670 likely pathogenic MENTAL RETARDATION, 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.

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