ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5069C>T (p.Ser1690Leu)

gnomAD frequency: 0.00002  dbSNP: rs552065719
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464312 SCV000548967 benign Adams-Oliver syndrome 5 2022-06-04 criteria provided, single submitter clinical testing
GeneDx RCV001799662 SCV002044046 uncertain significance not provided 2022-11-30 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 has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25793878)
Genome-Nilou Lab RCV000464312 SCV002553371 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270510 SCV002553372 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002525579 SCV003562757 uncertain significance Inborn genetic diseases 2021-07-08 criteria provided, single submitter clinical testing The c.5069C>T (p.S1690L) alteration is located in exon 27 (coding exon 27) of the NOTCH1 gene. This alteration results from a C to T substitution at nucleotide position 5069, causing the serine (S) at amino acid position 1690 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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