ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5965G>A (p.Asp1989Asn) (rs587777734)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000144233 SCV000189367 pathogenic Adams-Oliver syndrome 5 2014-09-04 no assertion criteria provided literature only
University of British Columbia RCV000144233 SCV000172280 benign Adams-Oliver syndrome 5 2015-07-23 no assertion criteria provided research We have since determined that the D1989N allele is carried by the proband's unaffected mother so it's status should be changed to Benign (the proband's father was affected but is deceased with no sample availability for him). Our molecular modeling reported in Stittrich, Am J Hum Genet. 2014, also determined this variant to have no effect on protein structure.

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