ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.773T>C (p.Ile258Thr)

gnomAD frequency: 0.00004  dbSNP: rs1217015143
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001967523 SCV002212585 likely benign Adams-Oliver syndrome 5 2024-07-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004042002 SCV003737779 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-08-08 criteria provided, single submitter clinical testing The c.773T>C (p.I258T) alteration is located in exon 5 (coding exon 5) of the NOTCH1 gene. This alteration results from a T to C substitution at nucleotide position 773, causing the isoleucine (I) at amino acid position 258 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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