ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3341G>A (p.Arg1114His)

gnomAD frequency: 0.00003  dbSNP: rs777684045
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521074 SCV000621527 uncertain significance not provided 2023-08-23 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26776195)
Labcorp Genetics (formerly Invitae), Labcorp RCV000818617 SCV000959239 benign Adams-Oliver syndrome 5 2023-08-30 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798869 SCV002043515 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000818617 SCV002553499 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270635 SCV002553500 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497034 SCV002791777 uncertain significance Aortic valve disease 1; Adams-Oliver syndrome 5 2022-05-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004537883 SCV004113075 uncertain significance NOTCH1-related disorder 2023-08-09 criteria provided, single submitter clinical testing The NOTCH1 c.3341G>A variant is predicted to result in the amino acid substitution p.Arg1114His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.029% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-139402576-C-T). 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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