Submissions for variant NM_000258.3(MYL3):c.184G>A (p.Asp62Asn) (rs730880954)

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Total submissions: 3

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000158939	SCV000208874	likely pathogenic	not provided	2014-04-18	criteria provided, single submitter	clinical testing	The D62N variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The D62N variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The D62N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense mutations in nearby residues (E56G, A57G) have been reported in association with HCM, supporting the functional importance of this region of the protein.Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in HCM panel(s).
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine	RCV000214205	SCV000272076	uncertain significance	not specified	2015-06-25	criteria provided, single submitter	clinical testing	The p.Asp62Asn variant in MYL3 has not been previously published in individuals with cardiomyopathy, but has been reported by 1 laboratory in ClinVar (http://ww w.ncbi.nlm.nih.gov/clinvar/variation/181438) and has been identified in 1/66674 European chromosomes by the Exome Aggregation Consortium (http://exac.broadinsti tute.org). Computational prediction tools and conservation analyses suggest this variant may impact the protein, though this information is not predictive enoug h to determine pathogenicity. In summary, the clinical significance of the p.Asp 62Asn variant is uncertain.
Color	RCV001185804	SCV001352108	uncertain significance	Cardiomyopathy	2019-12-02	criteria provided, single submitter	clinical testing

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