ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3338C>T (p.Ala1113Val)

gnomAD frequency: 0.00006  dbSNP: rs377351349
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002313936 SCV000739357 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-11-19 criteria provided, single submitter clinical testing The c.3338C>T (p.A1113V) alteration is located in exon 21 (coding exon 21) of the NOTCH1 gene. This alteration results from a C to T substitution at nucleotide position 3338, causing the alanine (A) at amino acid position 1113 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001246312 SCV001419656 benign Adams-Oliver syndrome 5 2023-10-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001246312 SCV002553501 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002269854 SCV002553502 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505065 SCV002816919 uncertain significance Aortic valve disease 1; Adams-Oliver syndrome 5 2021-07-20 criteria provided, single submitter clinical testing
ITMI RCV000121677 SCV000085875 not provided not specified 2013-09-19 no assertion provided reference population

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