ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4561G>A (p.Asp1521Asn) (rs794728679)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182560 SCV000234909 uncertain significance not provided 2018-01-08 criteria provided, single submitter clinical testing The D1521N variant has not beenpublished as pathogenic or been reported as benign to our knowledge. Furthermore, it is not observed in largepopulation cohorts (Lek et al., 2016). The D1521N variant is a semi-conservative amino acid substitution, whichmay impact secondary protein structure as these residues differ in some properties. In-silico analyses, includingprotein predictors and evolutionary conservation, support a deleterious effect. Nonetheless, additional evidence isneeded to clarify pathogenicity, including observation in a significant number of affected individuals, segregation data,and functional evidence.

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