ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7298T>C (p.Phe2433Ser)

gnomAD frequency: 0.00020  dbSNP: rs201493851
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000822987 SCV000963819 likely benign Adams-Oliver syndrome 5 2024-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029121 SCV003693406 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-07-14 criteria provided, single submitter clinical testing The c.7298T>C (p.F2433S) alteration is located in exon 34 (coding exon 34) of the NOTCH1 gene. This alteration results from a T to C substitution at nucleotide position 7298, causing the phenylalanine (F) at amino acid position 2433 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004721639 SCV005328054 uncertain significance not provided 2024-02-28 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
PreventionGenetics, part of Exact Sciences RCV004735822 SCV005351868 likely benign NOTCH1-related disorder 2024-06-10 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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