ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1255C>A (p.Gln419Lys) (rs1566535300)

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Total submissions: 1
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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 RCV000754865 SCV000882435 uncertain significance Dilated cardiomyopathy 1S 2019-01-01 criteria provided, single submitter research The p.Q419K variant was detected in a female patient with left ventricular noncompaction with no documented family history of cardiomyopathy. To our knowledge, p.Q419K variant had not been reported previously and no in vitro functional studies available. Despite the fact that multiple bioinformatic tools predict this variant to be pathogenic, due to lack of family screening and/or functional studies p.Q419K variant can only be classified as variant of unknown clinical significance.

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