ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.1410+1G>A (rs1566513862)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680042 SCV000807481 pathogenic Congenital heart defects 2017-09-01 criteria provided, single submitter clinical testing This splice site variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory maternally inherited in a 3-month-old female with multiple congenital heart defects (coarcation, multiple muscular VSDs, perimembranous VSD, mildly hypoplastic left-sided structures, mild tricuspid regurgitation), jaundice, calf hyperpigmentation, parental consanguinity, maternal aunt (deceased) with hypoplastic left heart. Although most MYH6 variants reported in patients are missense, a nonsense and a splicing variant have been reported in patients with tricuspid atresia and ASD respectively (PMID:20656787).

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