ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3373G>A (p.Ala1125Thr)

gnomAD frequency: 0.00004  dbSNP: rs767963898
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000802441 SCV000942273 benign Adams-Oliver syndrome 5 2023-06-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002534706 SCV003742452 uncertain significance Inborn genetic diseases 2021-11-22 criteria provided, single submitter clinical testing The c.3373G>A (p.A1125T) alteration is located in exon 21 (coding exon 21) of the NOTCH1 gene. This alteration results from a G to A substitution at nucleotide position 3373, causing the alanine (A) at amino acid position 1125 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003432769 SCV004162035 uncertain significance not provided 2022-10-01 criteria provided, single submitter clinical testing NOTCH1: PP2, BP4

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