ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6298A>G (p.Ile2100Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002629649 SCV003521824 benign Adams-Oliver syndrome 5 2023-12-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004529227 SCV004104825 uncertain significance NOTCH1-related disorder 2023-08-09 criteria provided, single submitter clinical testing The NOTCH1 c.6298A>G variant is predicted to result in the amino acid substitution p.Ile2100Val. This variant was reported in an individual with bicuspid aortic valve; however, the authors interpreted the variant as likely benign (Marek Debiec et al. 2022. PubMed ID: 35288444). This variant is reported in 0.0087% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-139391893-T-C). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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