ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2387C>T (p.Ala796Val)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002953570 SCV003275668 benign Adams-Oliver syndrome 5 2022-12-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536477 SCV004113253 uncertain significance NOTCH1-related disorder 2023-02-16 criteria provided, single submitter clinical testing The NOTCH1 c.2387C>T variant is predicted to result in the amino acid substitution p.Ala796Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0039% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-139407553-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Mayo Clinic Laboratories, Mayo Clinic RCV003481353 SCV004225190 uncertain significance not provided 2022-11-02 criteria provided, single submitter clinical testing PP2

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