ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3334G>A (p.Val1112Ile) (rs370696201)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706361 SCV000835405 likely benign Adams-Oliver syndrome 5 2020-02-12 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001281019 SCV001468430 uncertain significance Aortic valve disease 1; Adams-Oliver syndrome 5 2020-06-04 criteria provided, single submitter clinical testing NOTCH1 NM_017617.4 exon 21 p.Val1112Ile (c.3334G>A): This variant has not been reported in the literature but is present in 0.01% (7/35190) of Latino alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/9-139402583-C-T). This variant is present in ClinVar (Variation ID:582318). This variant amino acid (Ile) is present in several species including multiple mammals, and it is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
GeneDx RCV001537475 SCV001754361 uncertain significance not provided 2021-02-15 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 582318; Landrum et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function

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