ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6769G>A (p.Ala2257Thr)

gnomAD frequency: 0.00001  dbSNP: rs587778572
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000815941 SCV000956421 likely benign Adams-Oliver syndrome 5 2022-08-09 criteria provided, single submitter clinical testing
GeneDx RCV005001000 SCV005627028 uncertain significance not provided 2024-07-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign in relation to NOTCH1-related disorders to our knowledge; This variant is associated with the following publications: (PMID: 33599171)
ITMI RCV000121702 SCV000085900 not provided not specified 2013-09-19 no assertion provided reference population

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