ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.365T>G (p.Leu122Arg)

gnomAD frequency: 0.00001  dbSNP: rs984769025
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001347835 SCV001542115 benign Adams-Oliver syndrome 5 2022-12-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004531145 SCV004728084 uncertain significance NOTCH1-related disorder 2023-11-22 criteria provided, single submitter clinical testing The NOTCH1 c.365T>G variant is predicted to result in the amino acid substitution p.Leu122Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0068% of alleles in individuals of African descent in gnomAD. 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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