ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4045G>A (p.Glu1349Lys) (rs1566526272)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Petrovsky Russian Research Center of Surgery, The Federal Agency for Scientific Organizations RCV000678262 SCV000804201 uncertain significance Dilated cardiomyopathy 1S 2018-08-28 criteria provided, single submitter research We observed this de novo variant in a young female patient with neonatal manifestation of left ventricular noncompaction syndrome, heart failure, lowering of ejection fraction. Both her parents were healthy. We did not confirm paternity and maternity for this family, so variant p.E1439K does not meet ACMG criteria to be classified as likely pathogenic. Thus, our classification was based on absence from controls, multiple lines of computational evidence (PolyPhen2, SIFT, MutationTaster) and assumed de novo origin.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769449 SCV000900842 uncertain significance Cardiomyopathy 2017-06-09 criteria provided, single submitter clinical testing

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