ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.634C>A (p.His212Asn) (rs752772180)

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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 RCV000735844 SCV000781064 uncertain significance Dilated cardiomyopathy 1HH 2018-07-04 criteria provided, single submitter research The variant p.H212N was characterized as probably pathogenic by multiple prediction tools (PP3 criteria in ACMG Guidelines). It is also absent from population databases (PM2 criteria in ACMG Guidelines). However, in summary, the p.H212N variant can be classified as variant with unknown clinical significance. The p.H212N variant discovered in female patient with early-onset dilatation cardiomyopathy (pediatric DCM) and heart failure. The patient underwent heart transplantation at the age of 19.

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