Submissions for variant NM_001021.6(RPS17):c.159T>C (p.Tyr53=)

gnomAD frequency: 0.25775  dbSNP: rs6991

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000478127	SCV000567960	uncertain significance	not specified	2017-02-16	criteria provided, single submitter	clinical testing	The c.159 T>C (Y53Y) variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. No population data for this variant is available due to low coverage of the RPS17 gene (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant occurs at a position that is conserved across species. However, the variant is a synonymous change which does not affect the amino acid sequence, and in silico analysis predicts this variant likely does not affect splicing. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Ambry Genetics	RCV002402391	SCV002707845	likely benign	Diamond-Blackfan anemia	2016-02-03	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.