ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5972G>A (p.Arg1991His)

gnomAD frequency: 0.00001  dbSNP: rs1371022203
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000555969 SCV000659472 benign Adams-Oliver syndrome 5 2023-11-13 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001563587 SCV001786560 uncertain significance Aortic valve disease 1 2020-11-19 criteria provided, single submitter clinical testing The NOTCH1 c.5972G>A (p.Arg1991His) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The variant is reported at a frequency of 0.000165 in the Other population from the Genome Aggregation Database though this is based on one allele in a region of good sequencing coverage, so the variant is presumed to be rare. Based on the limited evidence, the p.Arg1991His variant is classified as a variant of uncertain significance for aortic valve disease.
Genome-Nilou Lab RCV000555969 SCV002553320 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563587 SCV002553321 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
GeneDx RCV004787900 SCV005401914 uncertain significance not provided 2024-05-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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