ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.3556T>A (p.Tyr1186Asn) (rs377058108)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD, LLC RCV000732629 SCV000860604 uncertain significance not provided 2018-03-30 criteria provided, single submitter clinical testing
Broad Institute Rare Disease Group, Broad Institute RCV001254707 SCV001430776 uncertain significance VATER association 2020-05-28 criteria provided, single submitter research The heterozygous p.Tyr1186Asn variant in NOTCH2 was identified by our study in 1 individual with VACTERL/vater association as well as this individuals mother whose affection status was unknown and was reported in the literature (PMID: 30143558). This variant has been identified in 0.02% (6/35436) of Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Tyr1186Asn variant is uncertain. ACMG/AMP Criteria applied: none (Richards 2015).

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