ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3908G>A (p.Arg1303His)

gnomAD frequency: 0.00001  dbSNP: rs768775024
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559743 SCV000659435 likely benign Adams-Oliver syndrome 5 2023-11-04 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000576544 SCV000678230 uncertain significance Aortic valve disease 1; Adams-Oliver syndrome 5 2021-03-30 criteria provided, single submitter clinical testing NOTCH1 NM_017617 exon24 p.Arg1303His (c.3908G>A): This variant has not been reported in the literature but is present in 14/33164 Latino chromosomes in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs768775024). Computational predictive tools suggest that this variant may not impact the protein. Of note, 5 other species carry a histidine (His) at this position, further suggesting that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736819 SCV004563374 uncertain significance not provided 2023-10-17 criteria provided, single submitter clinical testing The NOTCH1 c.3908G>A; p.Arg1303His variant (rs768775024), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 477924). This variant is found in the general population with an overall allele frequency of 0.0060% (16/265526 alleles) in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.323). Due to limited information, the clinical significance of this variant is uncertain at this time.

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