ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2715C>G (p.Ser905Arg)

dbSNP: rs759920601
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000518902 SCV000619087 uncertain significance not provided 2017-07-13 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the MYBPC3 gene. The S905R variant has not beenpublished as pathogenic or been reported as benign to our knowledge. This variant is not observed in largepopulation cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The S905Rvariant is a semi-conservative amino acid substitution, which may impact secondary protein structure as theseresidues differ in some properties. However, this substitution occurs at a position that is not conserved across species,and in silico analysis suggests that this variant likely does not alter the protein structure/function.

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