ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6348C>G (p.Tyr2116Ter) (rs1057518661)

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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 RCV000414999 SCV000328732 pathogenic Aortic valve disorder 2014-05-05 no assertion criteria provided clinical testing Our laboratory reported two molecular diagnoses in NOTCH1 (NM_017617.3, c.6348C>G) and TTN (NM_133378.3, c.12556C>T)in one individual with reported features of delayed speech, dysmorphic features (hypertelorism with widened nasal bridge, over folded helices and prominent long philtrum), congenital heart disease (tricuspid valve dysplasia, sinus of valsalva dilatation and atrial enlargement), pulmonary lymphangiectasia, and transient neonatal cholestasis. The variant in NOTCH1 is predicted to cause a nonsense mutation and is categorized as deleterious by ACMGG guidelines [PMID: 18414213].

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