ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3664G>A (p.Val1222Met)

gnomAD frequency: 0.00003  dbSNP: rs112900950
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532992 SCV000659427 benign Adams-Oliver syndrome 5 2023-12-25 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660159 SCV000782153 uncertain significance Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000532992 SCV002553478 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270691 SCV002553479 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506375 SCV002814122 uncertain significance Aortic valve disease 1; Adams-Oliver syndrome 5 2021-12-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736818 SCV004563309 uncertain significance not provided 2023-04-07 criteria provided, single submitter clinical testing The NOTCH1 c.3664G>A; p.Val1222Met variant (rs112900950), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 477917). This variant is found in the general population with an overall allele frequency of 0.0015% (4/266960 alleles) in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.194). Due to limited information, the clinical significance of this variant is uncertain at this time.

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